SNP Links for Protein (Select 45827802) - SNP

Links from Protein

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Select item 14893067421.

rs1489306742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:103389020 (GRCh38)
7:103029467 (GRCh37)
Canonical SPDI:: NC_000007.14:103389019:T:A,NC_000007.14:103389019:T:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.103389020T>A, NC_000007.14:g.103389020T>C, NC_000007.13:g.103029467T>A, NC_000007.13:g.103029467T>C, NG_023055.1:g.62158A>T, NG_023055.1:g.62158A>G, NM_198999.3:c.1502A>T, NM_198999.3:c.1502A>G, NM_198999.2:c.1502A>T, NM_198999.2:c.1502A>G, NM_206883.3:c.1502A>T, NM_206883.3:c.1502A>G, NM_206883.2:c.1502A>T, NM_206883.2:c.1502A>G, NM_206884.3:c.1502A>T, NM_206884.3:c.1502A>G, NM_206884.2:c.1502A>T, NM_206884.2:c.1502A>G, NM_001167962.2:c.1406A>T, NM_001167962.2:c.1406A>G, NM_001167962.1:c.1406A>T, NM_001167962.1:c.1406A>G, NR_135801.2:n.1550A>T, NR_135801.2:n.1550A>G, NR_135801.1:n.1520A>T, NR_135801.1:n.1520A>G, NM_001321787.2:c.1406A>T, NM_001321787.2:c.1406A>G, NM_001321787.1:c.1406A>T, NM_001321787.1:c.1406A>G, NR_135802.2:n.1698A>T, NR_135802.2:n.1698A>G, NR_135802.1:n.1668A>T, NR_135802.1:n.1668A>G, NR_120441.1:n.1588A>T, NR_120441.1:n.1588A>G, NR_120442.1:n.1484A>T, NR_120442.1:n.1484A>G, NR_120443.1:n.1510A>T, NR_120443.1:n.1510A>G, XM_011516170.4:c.1502A>T, XM_011516170.4:c.1502A>G, XM_011516170.3:c.1502A>T, XM_011516170.3:c.1502A>G, XM_011516170.2:c.1502A>T, XM_011516170.2:c.1502A>G, XM_011516170.1:c.1502A>T, XM_011516170.1:c.1502A>G, XM_047420347.1:c.1502A>T, XM_047420347.1:c.1502A>G, NP_945350.1:p.Tyr501Phe, NP_945350.1:p.Tyr501Cys, NP_996766.1:p.Tyr501Phe, NP_996766.1:p.Tyr501Cys, NP_996767.1:p.Tyr501Phe, NP_996767.1:p.Tyr501Cys, NP_001161434.1:p.Tyr469Phe, NP_001161434.1:p.Tyr469Cys, NP_001308716.1:p.Tyr469Phe, NP_001308716.1:p.Tyr469Cys, XP_011514472.1:p.Tyr501Phe, XP_011514472.1:p.Tyr501Cys, XP_047276303.1:p.Tyr501Phe, XP_047276303.1:p.Tyr501Cys

Select item 14885576142.

rs1488557614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:103407980 (GRCh38)
7:103048427 (GRCh37)
Canonical SPDI:: NC_000007.14:103407979:A:G
Gene:: SLC26A5 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103407980A>G, NC_000007.13:g.103048427A>G, NG_023055.1:g.43198T>C, NM_198999.3:c.759T>C, NM_198999.2:c.759T>C, NM_206883.3:c.759T>C, NM_206883.2:c.759T>C, NM_206884.3:c.759T>C, NM_206884.2:c.759T>C, NM_206885.3:c.759T>C, NM_206885.2:c.759T>C, NM_001167962.2:c.759T>C, NM_001167962.1:c.759T>C, NR_135801.2:n.1051T>C, NR_135801.1:n.1021T>C, NM_001321787.2:c.759T>C, NM_001321787.1:c.759T>C, NR_135802.2:n.1051T>C, NR_135802.1:n.1021T>C, NR_120441.1:n.941T>C, NR_120443.1:n.941T>C, XM_011516170.4:c.759T>C, XM_011516170.3:c.759T>C, XM_011516170.2:c.759T>C, XM_011516170.1:c.759T>C, XM_047420347.1:c.759T>C, XR_007060034.1:n.1051T>C

Select item 14878076503.

rs1487807650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:103411506 (GRCh38)
7:103051953 (GRCh37)
Canonical SPDI:: NC_000007.14:103411505:C:G
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103411506C>G, NC_000007.13:g.103051953C>G, NG_023055.1:g.39672G>C, NM_198999.3:c.484G>C, NM_198999.2:c.484G>C, NM_206883.3:c.484G>C, NM_206883.2:c.484G>C, NM_206884.3:c.484G>C, NM_206884.2:c.484G>C, NM_206885.3:c.484G>C, NM_206885.2:c.484G>C, NM_001167962.2:c.484G>C, NM_001167962.1:c.484G>C, NR_135801.2:n.776G>C, NR_135801.1:n.746G>C, NM_001321787.2:c.484G>C, NM_001321787.1:c.484G>C, NR_135802.2:n.776G>C, NR_135802.1:n.746G>C, NR_120441.1:n.666G>C, NR_120442.1:n.666G>C, NR_120443.1:n.666G>C, XM_011516170.4:c.484G>C, XM_011516170.3:c.484G>C, XM_011516170.2:c.484G>C, XM_011516170.1:c.484G>C, XM_047420347.1:c.484G>C, XR_007060034.1:n.776G>C, NP_945350.1:p.Val162Leu, NP_996766.1:p.Val162Leu, NP_996767.1:p.Val162Leu, NP_996768.1:p.Val162Leu, NP_001161434.1:p.Val162Leu, NP_001308716.1:p.Val162Leu, XP_011514472.1:p.Val162Leu, XP_047276303.1:p.Val162Leu

Select item 14850498114.

rs1485049811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:103390456 (GRCh38)
7:103030903 (GRCh37)
Canonical SPDI:: NC_000007.14:103390455:A:T
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103390456A>T, NC_000007.13:g.103030903A>T, NG_023055.1:g.60722T>A, NM_198999.3:c.1284T>A, NM_198999.2:c.1284T>A, NM_206883.3:c.1284T>A, NM_206883.2:c.1284T>A, NM_206884.3:c.1284T>A, NM_206884.2:c.1284T>A, NM_001167962.2:c.1284T>A, NM_001167962.1:c.1284T>A, NR_135801.2:n.1428T>A, NR_135801.1:n.1398T>A, NM_001321787.2:c.1284T>A, NM_001321787.1:c.1284T>A, NR_135802.2:n.1576T>A, NR_135802.1:n.1546T>A, NR_120441.1:n.1466T>A, NR_120442.1:n.1266T>A, XM_011516170.4:c.1284T>A, XM_011516170.3:c.1284T>A, XM_011516170.2:c.1284T>A, XM_011516170.1:c.1284T>A, XM_047420347.1:c.1284T>A, XR_007060034.1:n.1428T>A

Select item 14818170685.

rs1481817068 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:103413037 (GRCh38)
7:103053484 (GRCh37)
Canonical SPDI:: NC_000007.14:103413036:T:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103413037T>C, NC_000007.13:g.103053484T>C, NG_023055.1:g.38141A>G, NM_198999.3:c.368A>G, NM_198999.2:c.368A>G, NM_206883.3:c.368A>G, NM_206883.2:c.368A>G, NM_206884.3:c.368A>G, NM_206884.2:c.368A>G, NM_206885.3:c.368A>G, NM_206885.2:c.368A>G, NM_001167962.2:c.368A>G, NM_001167962.1:c.368A>G, NR_135801.2:n.660A>G, NR_135801.1:n.630A>G, NM_001321787.2:c.368A>G, NM_001321787.1:c.368A>G, NR_135802.2:n.660A>G, NR_135802.1:n.630A>G, NR_120441.1:n.550A>G, NR_120442.1:n.550A>G, NR_120443.1:n.550A>G, XM_011516170.4:c.368A>G, XM_011516170.3:c.368A>G, XM_011516170.2:c.368A>G, XM_011516170.1:c.368A>G, XM_047420347.1:c.368A>G, XR_007060034.1:n.660A>G, NP_945350.1:p.Tyr123Cys, NP_996766.1:p.Tyr123Cys, NP_996767.1:p.Tyr123Cys, NP_996768.1:p.Tyr123Cys, NP_001161434.1:p.Tyr123Cys, NP_001308716.1:p.Tyr123Cys, XP_011514472.1:p.Tyr123Cys, XP_047276303.1:p.Tyr123Cys

Select item 14801363836.

rs1480136383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:103413007 (GRCh38)
7:103053454 (GRCh37)
Canonical SPDI:: NC_000007.14:103413006:G:A
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103413007G>A, NC_000007.13:g.103053454G>A, NG_023055.1:g.38171C>T, NM_198999.3:c.398C>T, NM_198999.2:c.398C>T, NM_206883.3:c.398C>T, NM_206883.2:c.398C>T, NM_206884.3:c.398C>T, NM_206884.2:c.398C>T, NM_206885.3:c.398C>T, NM_206885.2:c.398C>T, NM_001167962.2:c.398C>T, NM_001167962.1:c.398C>T, NR_135801.2:n.690C>T, NR_135801.1:n.660C>T, NM_001321787.2:c.398C>T, NM_001321787.1:c.398C>T, NR_135802.2:n.690C>T, NR_135802.1:n.660C>T, NR_120441.1:n.580C>T, NR_120442.1:n.580C>T, NR_120443.1:n.580C>T, XM_011516170.4:c.398C>T, XM_011516170.3:c.398C>T, XM_011516170.2:c.398C>T, XM_011516170.1:c.398C>T, XM_047420347.1:c.398C>T, XR_007060034.1:n.690C>T, NP_945350.1:p.Ser133Phe, NP_996766.1:p.Ser133Phe, NP_996767.1:p.Ser133Phe, NP_996768.1:p.Ser133Phe, NP_001161434.1:p.Ser133Phe, NP_001308716.1:p.Ser133Phe, XP_011514472.1:p.Ser133Phe, XP_047276303.1:p.Ser133Phe

Select item 14781032727.

rs1478103272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:103421453 (GRCh38)
7:103061900 (GRCh37)
Canonical SPDI:: NC_000007.14:103421452:G:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103421453G>C, NC_000007.13:g.103061900G>C, NG_023055.1:g.29725C>G, NM_198999.3:c.62C>G, NM_198999.2:c.62C>G, NM_206883.3:c.62C>G, NM_206883.2:c.62C>G, NM_206884.3:c.62C>G, NM_206884.2:c.62C>G, NM_206885.3:c.62C>G, NM_206885.2:c.62C>G, NM_001167962.2:c.62C>G, NM_001167962.1:c.62C>G, NR_135801.2:n.354C>G, NR_135801.1:n.324C>G, NM_001321787.2:c.62C>G, NM_001321787.1:c.62C>G, NR_135802.2:n.354C>G, NR_135802.1:n.324C>G, NR_120441.1:n.244C>G, NR_120442.1:n.244C>G, NR_120443.1:n.244C>G, XM_011516170.4:c.62C>G, XM_011516170.3:c.62C>G, XM_011516170.2:c.62C>G, XM_011516170.1:c.62C>G, XM_047420347.1:c.62C>G, XR_007060034.1:n.354C>G, NP_945350.1:p.Pro21Arg, NP_996766.1:p.Pro21Arg, NP_996767.1:p.Pro21Arg, NP_996768.1:p.Pro21Arg, NP_001161434.1:p.Pro21Arg, NP_001308716.1:p.Pro21Arg, XP_011514472.1:p.Pro21Arg, XP_047276303.1:p.Pro21Arg

Select item 14779160578.

rs1477916057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:103390480 (GRCh38)
7:103030927 (GRCh37)
Canonical SPDI:: NC_000007.14:103390479:C:A
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103390480C>A, NC_000007.13:g.103030927C>A, NG_023055.1:g.60698G>T, NM_198999.3:c.1260G>T, NM_198999.2:c.1260G>T, NM_206883.3:c.1260G>T, NM_206883.2:c.1260G>T, NM_206884.3:c.1260G>T, NM_206884.2:c.1260G>T, NM_001167962.2:c.1260G>T, NM_001167962.1:c.1260G>T, NR_135801.2:n.1404G>T, NR_135801.1:n.1374G>T, NM_001321787.2:c.1260G>T, NM_001321787.1:c.1260G>T, NR_135802.2:n.1552G>T, NR_135802.1:n.1522G>T, NR_120441.1:n.1442G>T, NR_120442.1:n.1242G>T, XM_011516170.4:c.1260G>T, XM_011516170.3:c.1260G>T, XM_011516170.2:c.1260G>T, XM_011516170.1:c.1260G>T, XM_047420347.1:c.1260G>T, XR_007060034.1:n.1404G>T, NP_945350.1:p.Met420Ile, NP_996766.1:p.Met420Ile, NP_996767.1:p.Met420Ile, NP_001161434.1:p.Met420Ile, NP_001308716.1:p.Met420Ile, XP_011514472.1:p.Met420Ile, XP_047276303.1:p.Met420Ile

Select item 14749559809.

rs1474955980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:103393033 (GRCh38)
7:103033480 (GRCh37)
Canonical SPDI:: NC_000007.14:103393032:G:A
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103393033G>A, NC_000007.13:g.103033480G>A, NG_023055.1:g.58145C>T, NM_198999.3:c.1005C>T, NM_198999.2:c.1005C>T, NM_206883.3:c.1005C>T, NM_206883.2:c.1005C>T, NM_206884.3:c.1005C>T, NM_206884.2:c.1005C>T, NM_001167962.2:c.1005C>T, NM_001167962.1:c.1005C>T, NM_001321787.2:c.1005C>T, NM_001321787.1:c.1005C>T, NR_135802.2:n.1297C>T, NR_135802.1:n.1267C>T, NR_120441.1:n.1187C>T, NR_120443.1:n.1187C>T, XM_011516170.4:c.1005C>T, XM_011516170.3:c.1005C>T, XM_011516170.2:c.1005C>T, XM_011516170.1:c.1005C>T, XM_047420347.1:c.1005C>T

Select item 147425082210.

rs1474250822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:103410437 (GRCh38)
7:103050884 (GRCh37)
Canonical SPDI:: NC_000007.14:103410436:T:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.103410437T>C, NC_000007.13:g.103050884T>C, NG_023055.1:g.40741A>G, NM_198999.3:c.683A>G, NM_198999.2:c.683A>G, NM_206883.3:c.683A>G, NM_206883.2:c.683A>G, NM_206884.3:c.683A>G, NM_206884.2:c.683A>G, NM_206885.3:c.683A>G, NM_206885.2:c.683A>G, NM_001167962.2:c.683A>G, NM_001167962.1:c.683A>G, NR_135801.2:n.975A>G, NR_135801.1:n.945A>G, NM_001321787.2:c.683A>G, NM_001321787.1:c.683A>G, NR_135802.2:n.975A>G, NR_135802.1:n.945A>G, NR_120441.1:n.865A>G, NR_120442.1:n.865A>G, NR_120443.1:n.865A>G, XM_011516170.4:c.683A>G, XM_011516170.3:c.683A>G, XM_011516170.2:c.683A>G, XM_011516170.1:c.683A>G, XM_047420347.1:c.683A>G, XR_007060034.1:n.975A>G, NP_945350.1:p.Tyr228Cys, NP_996766.1:p.Tyr228Cys, NP_996767.1:p.Tyr228Cys, NP_996768.1:p.Tyr228Cys, NP_001161434.1:p.Tyr228Cys, NP_001308716.1:p.Tyr228Cys, XP_011514472.1:p.Tyr228Cys, XP_047276303.1:p.Tyr228Cys

Select item 147236437911.

rs1472364379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:103420827 (GRCh38)
7:103061274 (GRCh37)
Canonical SPDI:: NC_000007.14:103420826:G:A
Gene:: SLC26A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103420827G>A, NC_000007.13:g.103061274G>A, NG_023055.1:g.30351C>T, NM_198999.3:c.203C>T, NM_198999.2:c.203C>T, NM_206883.3:c.203C>T, NM_206883.2:c.203C>T, NM_206884.3:c.203C>T, NM_206884.2:c.203C>T, NM_206885.3:c.203C>T, NM_206885.2:c.203C>T, NM_001167962.2:c.203C>T, NM_001167962.1:c.203C>T, NR_135801.2:n.495C>T, NR_135801.1:n.465C>T, NM_001321787.2:c.203C>T, NM_001321787.1:c.203C>T, NR_135802.2:n.495C>T, NR_135802.1:n.465C>T, NR_120441.1:n.385C>T, NR_120442.1:n.385C>T, NR_120443.1:n.385C>T, XM_011516170.4:c.203C>T, XM_011516170.3:c.203C>T, XM_011516170.2:c.203C>T, XM_011516170.1:c.203C>T, XM_047420347.1:c.203C>T, XR_007060034.1:n.495C>T, NP_945350.1:p.Thr68Ile, NP_996766.1:p.Thr68Ile, NP_996767.1:p.Thr68Ile, NP_996768.1:p.Thr68Ile, NP_001161434.1:p.Thr68Ile, NP_001308716.1:p.Thr68Ile, XP_011514472.1:p.Thr68Ile, XP_047276303.1:p.Thr68Ile

Select item 146882157712.

rs1468821577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:103411554 (GRCh38)
7:103052001 (GRCh37)
Canonical SPDI:: NC_000007.14:103411553:C:T
Gene:: SLC26A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103411554C>T, NC_000007.13:g.103052001C>T, NG_023055.1:g.39624G>A, NM_198999.3:c.436G>A, NM_198999.2:c.436G>A, NM_206883.3:c.436G>A, NM_206883.2:c.436G>A, NM_206884.3:c.436G>A, NM_206884.2:c.436G>A, NM_206885.3:c.436G>A, NM_206885.2:c.436G>A, NM_001167962.2:c.436G>A, NM_001167962.1:c.436G>A, NR_135801.2:n.728G>A, NR_135801.1:n.698G>A, NM_001321787.2:c.436G>A, NM_001321787.1:c.436G>A, NR_135802.2:n.728G>A, NR_135802.1:n.698G>A, NR_120441.1:n.618G>A, NR_120442.1:n.618G>A, NR_120443.1:n.618G>A, XM_011516170.4:c.436G>A, XM_011516170.3:c.436G>A, XM_011516170.2:c.436G>A, XM_011516170.1:c.436G>A, XM_047420347.1:c.436G>A, XR_007060034.1:n.728G>A, NP_945350.1:p.Gly146Ser, NP_996766.1:p.Gly146Ser, NP_996767.1:p.Gly146Ser, NP_996768.1:p.Gly146Ser, NP_001161434.1:p.Gly146Ser, NP_001308716.1:p.Gly146Ser, XP_011514472.1:p.Gly146Ser, XP_047276303.1:p.Gly146Ser

Select item 146845290513.

rs1468452905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:103420865 (GRCh38)
7:103061312 (GRCh37)
Canonical SPDI:: NC_000007.14:103420864:T:C,NC_000007.14:103420864:T:G
Gene:: SLC26A5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.103420865T>C, NC_000007.14:g.103420865T>G, NC_000007.13:g.103061312T>C, NC_000007.13:g.103061312T>G, NG_023055.1:g.30313A>G, NG_023055.1:g.30313A>C, NM_198999.3:c.165A>G, NM_198999.3:c.165A>C, NM_198999.2:c.165A>G, NM_198999.2:c.165A>C, NM_206883.3:c.165A>G, NM_206883.3:c.165A>C, NM_206883.2:c.165A>G, NM_206883.2:c.165A>C, NM_206884.3:c.165A>G, NM_206884.3:c.165A>C, NM_206884.2:c.165A>G, NM_206884.2:c.165A>C, NM_206885.3:c.165A>G, NM_206885.3:c.165A>C, NM_206885.2:c.165A>G, NM_206885.2:c.165A>C, NM_001167962.2:c.165A>G, NM_001167962.2:c.165A>C, NM_001167962.1:c.165A>G, NM_001167962.1:c.165A>C, NR_135801.2:n.457A>G, NR_135801.2:n.457A>C, NR_135801.1:n.427A>G, NR_135801.1:n.427A>C, NM_001321787.2:c.165A>G, NM_001321787.2:c.165A>C, NM_001321787.1:c.165A>G, NM_001321787.1:c.165A>C, NR_135802.2:n.457A>G, NR_135802.2:n.457A>C, NR_135802.1:n.427A>G, NR_135802.1:n.427A>C, NR_120441.1:n.347A>G, NR_120441.1:n.347A>C, NR_120442.1:n.347A>G, NR_120442.1:n.347A>C, NR_120443.1:n.347A>G, NR_120443.1:n.347A>C, XM_011516170.4:c.165A>G, XM_011516170.4:c.165A>C, XM_011516170.3:c.165A>G, XM_011516170.3:c.165A>C, XM_011516170.2:c.165A>G, XM_011516170.2:c.165A>C, XM_011516170.1:c.165A>G, XM_011516170.1:c.165A>C, XM_047420347.1:c.165A>G, XM_047420347.1:c.165A>C, XR_007060034.1:n.457A>G, XR_007060034.1:n.457A>C, NP_945350.1:p.Lys55Asn, NP_996766.1:p.Lys55Asn, NP_996767.1:p.Lys55Asn, NP_996768.1:p.Lys55Asn, NP_001161434.1:p.Lys55Asn, NP_001308716.1:p.Lys55Asn, XP_011514472.1:p.Lys55Asn, XP_047276303.1:p.Lys55Asn

Select item 146778732014.

rs1467787320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:103393031 (GRCh38)
7:103033478 (GRCh37)
Canonical SPDI:: NC_000007.14:103393030:A:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103393031A>C, NC_000007.13:g.103033478A>C, NG_023055.1:g.58147T>G, NM_198999.3:c.1007T>G, NM_198999.2:c.1007T>G, NM_206883.3:c.1007T>G, NM_206883.2:c.1007T>G, NM_206884.3:c.1007T>G, NM_206884.2:c.1007T>G, NM_001167962.2:c.1007T>G, NM_001167962.1:c.1007T>G, NM_001321787.2:c.1007T>G, NM_001321787.1:c.1007T>G, NR_135802.2:n.1299T>G, NR_135802.1:n.1269T>G, NR_120441.1:n.1189T>G, NR_120443.1:n.1189T>G, XM_011516170.4:c.1007T>G, XM_011516170.3:c.1007T>G, XM_011516170.2:c.1007T>G, XM_011516170.1:c.1007T>G, XM_047420347.1:c.1007T>G, NP_945350.1:p.Phe336Cys, NP_996766.1:p.Phe336Cys, NP_996767.1:p.Phe336Cys, NP_001161434.1:p.Phe336Cys, NP_001308716.1:p.Phe336Cys, XP_011514472.1:p.Phe336Cys, XP_047276303.1:p.Phe336Cys

Select item 146287403715.

rs1462874037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:103420843 (GRCh38)
7:103061290 (GRCh37)
Canonical SPDI:: NC_000007.14:103420842:T:C
Gene:: SLC26A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.103420843T>C, NC_000007.13:g.103061290T>C, NG_023055.1:g.30335A>G, NM_198999.3:c.187A>G, NM_198999.2:c.187A>G, NM_206883.3:c.187A>G, NM_206883.2:c.187A>G, NM_206884.3:c.187A>G, NM_206884.2:c.187A>G, NM_206885.3:c.187A>G, NM_206885.2:c.187A>G, NM_001167962.2:c.187A>G, NM_001167962.1:c.187A>G, NR_135801.2:n.479A>G, NR_135801.1:n.449A>G, NM_001321787.2:c.187A>G, NM_001321787.1:c.187A>G, NR_135802.2:n.479A>G, NR_135802.1:n.449A>G, NR_120441.1:n.369A>G, NR_120442.1:n.369A>G, NR_120443.1:n.369A>G, XM_011516170.4:c.187A>G, XM_011516170.3:c.187A>G, XM_011516170.2:c.187A>G, XM_011516170.1:c.187A>G, XM_047420347.1:c.187A>G, XR_007060034.1:n.479A>G, NP_945350.1:p.Met63Val, NP_996766.1:p.Met63Val, NP_996767.1:p.Met63Val, NP_996768.1:p.Met63Val, NP_001161434.1:p.Met63Val, NP_001308716.1:p.Met63Val, XP_011514472.1:p.Met63Val, XP_047276303.1:p.Met63Val

Select item 146054662316.

rs1460546623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:103389393 (GRCh38)
7:103029840 (GRCh37)
Canonical SPDI:: NC_000007.14:103389392:A:G
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.103389393A>G, NC_000007.13:g.103029840A>G, NG_023055.1:g.61785T>C, NM_198999.3:c.1343T>C, NM_198999.2:c.1343T>C, NM_206883.3:c.1343T>C, NM_206883.2:c.1343T>C, NM_206884.3:c.1343T>C, NM_206884.2:c.1343T>C, NR_120442.1:n.1325T>C, XM_011516170.4:c.1343T>C, XM_011516170.3:c.1343T>C, XM_011516170.2:c.1343T>C, XM_011516170.1:c.1343T>C, XM_047420347.1:c.1343T>C, XR_007060034.1:n.1487T>C, NP_945350.1:p.Leu448Pro, NP_996766.1:p.Leu448Pro, NP_996767.1:p.Leu448Pro, XP_011514472.1:p.Leu448Pro, XP_047276303.1:p.Leu448Pro

Select item 145693223417.

rs1456932234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:103420760 (GRCh38)
7:103061207 (GRCh37)
Canonical SPDI:: NC_000007.14:103420759:T:G
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103420760T>G, NC_000007.13:g.103061207T>G, NG_023055.1:g.30418A>C, NM_198999.3:c.270A>C, NM_198999.2:c.270A>C, NM_206883.3:c.270A>C, NM_206883.2:c.270A>C, NM_206884.3:c.270A>C, NM_206884.2:c.270A>C, NM_206885.3:c.270A>C, NM_206885.2:c.270A>C, NM_001167962.2:c.270A>C, NM_001167962.1:c.270A>C, NR_135801.2:n.562A>C, NR_135801.1:n.532A>C, NM_001321787.2:c.270A>C, NM_001321787.1:c.270A>C, NR_135802.2:n.562A>C, NR_135802.1:n.532A>C, NR_120441.1:n.452A>C, NR_120442.1:n.452A>C, NR_120443.1:n.452A>C, XM_011516170.4:c.270A>C, XM_011516170.3:c.270A>C, XM_011516170.2:c.270A>C, XM_011516170.1:c.270A>C, XM_047420347.1:c.270A>C, XR_007060034.1:n.562A>C

Select item 145635039118.

rs1456350391 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:103420871 (GRCh38)
7:103061318 (GRCh37)
Canonical SPDI:: NC_000007.14:103420870:A:T
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103420871A>T, NC_000007.13:g.103061318A>T, NG_023055.1:g.30307T>A, NM_198999.3:c.159T>A, NM_198999.2:c.159T>A, NM_206883.3:c.159T>A, NM_206883.2:c.159T>A, NM_206884.3:c.159T>A, NM_206884.2:c.159T>A, NM_206885.3:c.159T>A, NM_206885.2:c.159T>A, NM_001167962.2:c.159T>A, NM_001167962.1:c.159T>A, NR_135801.2:n.451T>A, NR_135801.1:n.421T>A, NM_001321787.2:c.159T>A, NM_001321787.1:c.159T>A, NR_135802.2:n.451T>A, NR_135802.1:n.421T>A, NR_120441.1:n.341T>A, NR_120442.1:n.341T>A, NR_120443.1:n.341T>A, XM_011516170.4:c.159T>A, XM_011516170.3:c.159T>A, XM_011516170.2:c.159T>A, XM_011516170.1:c.159T>A, XM_047420347.1:c.159T>A, XR_007060034.1:n.451T>A

Select item 145609107619.

rs1456091076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:103421471 (GRCh38)
7:103061918 (GRCh37)
Canonical SPDI:: NC_000007.14:103421470:C:A
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103421471C>A, NC_000007.13:g.103061918C>A, NG_023055.1:g.29707G>T, NM_198999.3:c.44G>T, NM_198999.2:c.44G>T, NM_206883.3:c.44G>T, NM_206883.2:c.44G>T, NM_206884.3:c.44G>T, NM_206884.2:c.44G>T, NM_206885.3:c.44G>T, NM_206885.2:c.44G>T, NM_001167962.2:c.44G>T, NM_001167962.1:c.44G>T, NR_135801.2:n.336G>T, NR_135801.1:n.306G>T, NM_001321787.2:c.44G>T, NM_001321787.1:c.44G>T, NR_135802.2:n.336G>T, NR_135802.1:n.306G>T, NR_120441.1:n.226G>T, NR_120442.1:n.226G>T, NR_120443.1:n.226G>T, XM_011516170.4:c.44G>T, XM_011516170.3:c.44G>T, XM_011516170.2:c.44G>T, XM_011516170.1:c.44G>T, XM_047420347.1:c.44G>T, XR_007060034.1:n.336G>T, NP_945350.1:p.Arg15Met, NP_996766.1:p.Arg15Met, NP_996767.1:p.Arg15Met, NP_996768.1:p.Arg15Met, NP_001161434.1:p.Arg15Met, NP_001308716.1:p.Arg15Met, XP_011514472.1:p.Arg15Met, XP_047276303.1:p.Arg15Met

Select item 145300585520.

rs1453005855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:103391656 (GRCh38)
7:103032103 (GRCh37)
Canonical SPDI:: NC_000007.14:103391655:C:T
Gene:: SLC26A5 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.103391656C>T, NC_000007.13:g.103032103C>T, NG_023055.1:g.59522G>A, NM_198999.3:c.1199G>A, NM_198999.2:c.1199G>A, NM_206883.3:c.1199G>A, NM_206883.2:c.1199G>A, NM_206884.3:c.1199G>A, NM_206884.2:c.1199G>A, NM_001167962.2:c.1199G>A, NM_001167962.1:c.1199G>A, NR_135801.2:n.1343G>A, NR_135801.1:n.1313G>A, NM_001321787.2:c.1199G>A, NM_001321787.1:c.1199G>A, NR_135802.2:n.1491G>A, NR_135802.1:n.1461G>A, NR_120441.1:n.1381G>A, NR_120442.1:n.1181G>A, NR_120443.1:n.1381G>A, XM_011516170.4:c.1199G>A, XM_011516170.3:c.1199G>A, XM_011516170.2:c.1199G>A, XM_011516170.1:c.1199G>A, XM_047420347.1:c.1199G>A, XR_007060034.1:n.1343G>A, NP_945350.1:p.Ser400Asn, NP_996766.1:p.Ser400Asn, NP_996767.1:p.Ser400Asn, NP_001161434.1:p.Ser400Asn, NP_001308716.1:p.Ser400Asn, XP_011514472.1:p.Ser400Asn, XP_047276303.1:p.Ser400Asn

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