SNP Links for Protein (Select 816197586) - SNP

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Links from Protein

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Select item 14907633081.

rs1490763308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:57680540 (GRCh38)
16:57714452 (GRCh37)
Canonical SPDI:: NC_000016.10:57680539:C:G,NC_000016.10:57680539:C:T
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.57680540C>G, NC_000016.10:g.57680540C>T, NC_000016.9:g.57714452C>G, NC_000016.9:g.57714452C>T, XM_005255842.5:c.804C>G, XM_005255842.5:c.804C>T, XM_005255842.4:c.804C>G, XM_005255842.4:c.804C>T, XM_005255842.3:c.804C>G, XM_005255842.3:c.804C>T, XM_005255842.2:c.804C>G, XM_005255842.2:c.804C>T, XM_005255842.1:c.804C>G, XM_005255842.1:c.804C>T, NM_170776.5:c.804C>G, NM_170776.5:c.804C>T, NM_170776.4:c.804C>G, NM_170776.4:c.804C>T, XM_006721170.5:c.804C>G, XM_006721170.5:c.804C>T, XM_006721170.4:c.804C>G, XM_006721170.4:c.804C>T, XM_006721170.3:c.804C>G, XM_006721170.3:c.804C>T, XM_006721170.2:c.804C>G, XM_006721170.2:c.804C>T, XM_006721170.1:c.804C>G, XM_006721170.1:c.804C>T, XM_011522953.4:c.804C>G, XM_011522953.4:c.804C>T, XM_011522953.3:c.804C>G, XM_011522953.3:c.804C>T, XM_011522953.2:c.804C>G, XM_011522953.2:c.804C>T, XM_011522953.1:c.804C>G, XM_011522953.1:c.804C>T, NM_001308360.2:c.444C>G, NM_001308360.2:c.444C>T, NM_001308360.1:c.444C>G, NM_001308360.1:c.444C>T, XM_047433780.1:c.693C>G, XM_047433780.1:c.693C>T, XM_047433781.1:c.444C>G, XM_047433781.1:c.444C>T, XM_047433782.1:c.804C>G, XM_047433782.1:c.804C>T

Select item 14874140212.

rs1487414021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:57685798 (GRCh38)
16:57719710 (GRCh37)
Canonical SPDI:: NC_000016.10:57685797:A:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000062/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.57685798A>G, NC_000016.9:g.57719710A>G, XM_005255842.5:c.1553A>G, XM_005255842.4:c.1553A>G, XM_005255842.3:c.1553A>G, XM_005255842.2:c.1553A>G, XM_005255842.1:c.1553A>G, NM_170776.5:c.1412A>G, NM_170776.4:c.1412A>G, XM_011522953.4:c.1037A>G, XM_011522953.3:c.1037A>G, XM_011522953.2:c.1037A>G, XM_011522953.1:c.1037A>G, NM_001308360.2:c.1052A>G, NM_001308360.1:c.1052A>G, XM_047433780.1:c.1442A>G, XM_047433781.1:c.1193A>G, XP_005255899.1:p.Lys518Arg, NP_740746.4:p.Lys471Arg, XP_011521255.1:p.Lys346Arg, NP_001295289.1:p.Lys351Arg, XP_047289736.1:p.Lys481Arg, XP_047289737.1:p.Lys398Arg

Select item 14851965653.

rs1485196565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:57679308 (GRCh38)
16:57713220 (GRCh37)
Canonical SPDI:: NC_000016.10:57679307:C:A,NC_000016.10:57679307:C:T
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000016.10:g.57679308C>A, NC_000016.10:g.57679308C>T, NC_000016.9:g.57713220C>A, NC_000016.9:g.57713220C>T, XM_005255842.5:c.624C>A, XM_005255842.5:c.624C>T, XM_005255842.4:c.624C>A, XM_005255842.4:c.624C>T, XM_005255842.3:c.624C>A, XM_005255842.3:c.624C>T, XM_005255842.2:c.624C>A, XM_005255842.2:c.624C>T, XM_005255842.1:c.624C>A, XM_005255842.1:c.624C>T, NM_170776.5:c.624C>A, NM_170776.5:c.624C>T, NM_170776.4:c.624C>A, NM_170776.4:c.624C>T, XM_006721170.5:c.624C>A, XM_006721170.5:c.624C>T, XM_006721170.4:c.624C>A, XM_006721170.4:c.624C>T, XM_006721170.3:c.624C>A, XM_006721170.3:c.624C>T, XM_006721170.2:c.624C>A, XM_006721170.2:c.624C>T, XM_006721170.1:c.624C>A, XM_006721170.1:c.624C>T, XM_011522953.4:c.624C>A, XM_011522953.4:c.624C>T, XM_011522953.3:c.624C>A, XM_011522953.3:c.624C>T, XM_011522953.2:c.624C>A, XM_011522953.2:c.624C>T, XM_011522953.1:c.624C>A, XM_011522953.1:c.624C>T, XM_011522954.3:c.624C>A, XM_011522954.3:c.624C>T, XM_011522954.2:c.624C>A, XM_011522954.2:c.624C>T, XM_011522954.1:c.624C>A, XM_011522954.1:c.624C>T, NM_001308360.2:c.264C>A, NM_001308360.2:c.264C>T, NM_001308360.1:c.264C>A, NM_001308360.1:c.264C>T, XM_047433780.1:c.513C>A, XM_047433780.1:c.513C>T, XM_047433781.1:c.264C>A, XM_047433781.1:c.264C>T, XM_047433782.1:c.624C>A, XM_047433782.1:c.624C>T, XM_047433783.1:c.624C>A, XM_047433783.1:c.624C>T

Select item 14837778864.

rs1483777886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:57678307 (GRCh38)
16:57712219 (GRCh37)
Canonical SPDI:: NC_000016.10:57678306:T:A
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57678307T>A, NC_000016.9:g.57712219T>A, XM_005255842.5:c.483T>A, XM_005255842.4:c.483T>A, XM_005255842.3:c.483T>A, XM_005255842.2:c.483T>A, XM_005255842.1:c.483T>A, NM_170776.5:c.483T>A, NM_170776.4:c.483T>A, XM_006721170.5:c.483T>A, XM_006721170.4:c.483T>A, XM_006721170.3:c.483T>A, XM_006721170.2:c.483T>A, XM_006721170.1:c.483T>A, XM_011522953.4:c.483T>A, XM_011522953.3:c.483T>A, XM_011522953.2:c.483T>A, XM_011522953.1:c.483T>A, XM_011522954.3:c.483T>A, XM_011522954.2:c.483T>A, XM_011522954.1:c.483T>A, NM_001308360.2:c.123T>A, NM_001308360.1:c.123T>A, XM_047433780.1:c.372T>A, XM_047433781.1:c.123T>A, XM_047433782.1:c.483T>A, XM_047433783.1:c.483T>A

Select item 14808059255.

rs1480805925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:57684060 (GRCh38)
16:57717972 (GRCh37)
Canonical SPDI:: NC_000016.10:57684059:C:T
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57684060C>T, NC_000016.9:g.57717972C>T, XM_005255842.5:c.1151C>T, XM_005255842.4:c.1151C>T, XM_005255842.3:c.1151C>T, XM_005255842.2:c.1151C>T, XM_005255842.1:c.1151C>T, NM_170776.5:c.1010C>T, NM_170776.4:c.1010C>T, NM_001308360.2:c.650C>T, NM_001308360.1:c.650C>T, XM_047433780.1:c.1040C>T, XM_047433781.1:c.791C>T, XM_047433783.1:c.*6C>T, XP_005255899.1:p.Ala384Val, NP_740746.4:p.Ala337Val, NP_001295289.1:p.Ala217Val, XP_047289736.1:p.Ala347Val, XP_047289737.1:p.Ala264Val

Select item 14795087726.

rs1479508772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:57684444 (GRCh38)
16:57718356 (GRCh37)
Canonical SPDI:: NC_000016.10:57684443:A:C,NC_000016.10:57684443:A:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000016.10:g.57684444A>C, NC_000016.10:g.57684444A>G, NC_000016.9:g.57718356A>C, NC_000016.9:g.57718356A>G, XM_005255842.5:c.1358A>C, XM_005255842.5:c.1358A>G, XM_005255842.4:c.1358A>C, XM_005255842.4:c.1358A>G, XM_005255842.3:c.1358A>C, XM_005255842.3:c.1358A>G, XM_005255842.2:c.1358A>C, XM_005255842.2:c.1358A>G, XM_005255842.1:c.1358A>C, XM_005255842.1:c.1358A>G, NM_170776.5:c.1217A>C, NM_170776.5:c.1217A>G, NM_170776.4:c.1217A>C, NM_170776.4:c.1217A>G, NM_001308360.2:c.857A>C, NM_001308360.2:c.857A>G, NM_001308360.1:c.857A>C, NM_001308360.1:c.857A>G, XM_047433780.1:c.1247A>C, XM_047433780.1:c.1247A>G, XM_047433781.1:c.998A>C, XM_047433781.1:c.998A>G, XM_047433782.1:c.936A>C, XM_047433782.1:c.936A>G, XP_005255899.1:p.Tyr453Ser, XP_005255899.1:p.Tyr453Cys, NP_740746.4:p.Tyr406Ser, NP_740746.4:p.Tyr406Cys, NP_001295289.1:p.Tyr286Ser, NP_001295289.1:p.Tyr286Cys, XP_047289736.1:p.Tyr416Ser, XP_047289736.1:p.Tyr416Cys, XP_047289737.1:p.Tyr333Ser, XP_047289737.1:p.Tyr333Cys

Select item 14783301157.

rs1478330115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:57688352 (GRCh38)
16:57722264 (GRCh37)
Canonical SPDI:: NC_000016.10:57688351:G:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57688352G>C, NC_000016.9:g.57722264G>C, XM_005255842.5:c.1682G>C, XM_005255842.4:c.1682G>C, XM_005255842.3:c.1682G>C, XM_005255842.2:c.1682G>C, XM_005255842.1:c.1682G>C, NM_170776.5:c.1541G>C, NM_170776.4:c.1541G>C, XM_006721170.5:c.882G>C, XM_006721170.4:c.882G>C, XM_006721170.3:c.882G>C, XM_006721170.2:c.882G>C, XM_006721170.1:c.882G>C, XM_011522953.4:c.1166G>C, XM_011522953.3:c.1166G>C, XM_011522953.2:c.1166G>C, XM_011522953.1:c.1166G>C, XM_011522954.3:c.769G>C, XM_011522954.2:c.769G>C, XM_011522954.1:c.769G>C, NM_001308360.2:c.1181G>C, NM_001308360.1:c.1181G>C, XM_047433780.1:c.1571G>C, XM_047433781.1:c.1322G>C, XP_005255899.1:p.Gly561Ala, NP_740746.4:p.Gly514Ala, XP_006721233.1:p.Arg294Ser, XP_011521255.1:p.Gly389Ala, XP_011521256.1:p.Val257Leu, NP_001295289.1:p.Gly394Ala, XP_047289736.1:p.Gly524Ala, XP_047289737.1:p.Gly441Ala

Select item 14753747628.

rs1475374762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:57680514 (GRCh38)
16:57714426 (GRCh37)
Canonical SPDI:: NC_000016.10:57680513:T:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.57680514T>C, NC_000016.9:g.57714426T>C, XM_005255842.5:c.778T>C, XM_005255842.4:c.778T>C, XM_005255842.3:c.778T>C, XM_005255842.2:c.778T>C, XM_005255842.1:c.778T>C, NM_170776.5:c.778T>C, NM_170776.4:c.778T>C, XM_006721170.5:c.778T>C, XM_006721170.4:c.778T>C, XM_006721170.3:c.778T>C, XM_006721170.2:c.778T>C, XM_006721170.1:c.778T>C, XM_011522953.4:c.778T>C, XM_011522953.3:c.778T>C, XM_011522953.2:c.778T>C, XM_011522953.1:c.778T>C, NM_001308360.2:c.418T>C, NM_001308360.1:c.418T>C, XM_047433780.1:c.667T>C, XM_047433781.1:c.418T>C, XM_047433782.1:c.778T>C

Select item 14698973289.

rs1469897328 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:57678315 (GRCh38)
16:57712227 (GRCh37)
Canonical SPDI:: NC_000016.10:57678314:A:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57678315A>C, NC_000016.9:g.57712227A>C, XM_005255842.5:c.491A>C, XM_005255842.4:c.491A>C, XM_005255842.3:c.491A>C, XM_005255842.2:c.491A>C, XM_005255842.1:c.491A>C, NM_170776.5:c.491A>C, NM_170776.4:c.491A>C, XM_006721170.5:c.491A>C, XM_006721170.4:c.491A>C, XM_006721170.3:c.491A>C, XM_006721170.2:c.491A>C, XM_006721170.1:c.491A>C, XM_011522953.4:c.491A>C, XM_011522953.3:c.491A>C, XM_011522953.2:c.491A>C, XM_011522953.1:c.491A>C, XM_011522954.3:c.491A>C, XM_011522954.2:c.491A>C, XM_011522954.1:c.491A>C, NM_001308360.2:c.131A>C, NM_001308360.1:c.131A>C, XM_047433780.1:c.380A>C, XM_047433781.1:c.131A>C, XM_047433782.1:c.491A>C, XM_047433783.1:c.491A>C, XP_005255899.1:p.Lys164Thr, NP_740746.4:p.Lys164Thr, XP_006721233.1:p.Lys164Thr, XP_011521255.1:p.Lys164Thr, XP_011521256.1:p.Lys164Thr, NP_001295289.1:p.Lys44Thr, XP_047289736.1:p.Lys127Thr, XP_047289737.1:p.Lys44Thr, XP_047289738.1:p.Lys164Thr, XP_047289739.1:p.Lys164Thr

Select item 146701648110.

rs1467016481 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:57680268 (GRCh38)
16:57714180 (GRCh37)
Canonical SPDI:: NC_000016.10:57680267:CC:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57680269del, NC_000016.9:g.57714181del, XM_005255842.5:c.672del, XM_005255842.4:c.672del, XM_005255842.3:c.672del, XM_005255842.2:c.672del, XM_005255842.1:c.672del, NM_170776.5:c.672del, NM_170776.4:c.672del, XM_006721170.5:c.672del, XM_006721170.4:c.672del, XM_006721170.3:c.672del, XM_006721170.2:c.672del, XM_006721170.1:c.672del, XM_011522953.4:c.672del, XM_011522953.3:c.672del, XM_011522953.2:c.672del, XM_011522953.1:c.672del, XM_011522954.3:c.672del, XM_011522954.2:c.672del, XM_011522954.1:c.672del, NM_001308360.2:c.312del, NM_001308360.1:c.312del, XM_047433780.1:c.561del, XM_047433781.1:c.312del, XM_047433782.1:c.672del, XM_047433783.1:c.672del, XP_005255899.1:p.Thr225fs, NP_740746.4:p.Thr225fs, XP_006721233.1:p.Thr225fs, XP_011521255.1:p.Thr225fs, XP_011521256.1:p.Thr225fs, NP_001295289.1:p.Thr105fs, XP_047289736.1:p.Thr188fs, XP_047289737.1:p.Thr105fs, XP_047289738.1:p.Thr225fs, XP_047289739.1:p.Thr225fs

Select item 146550802311.

rs1465508023 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:57684108 (GRCh38)
16:57718021 (GRCh37)
Canonical SPDI:: NC_000016.10:57684108:C:CC
Gene:: ADGRG3 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.57684109dup, NC_000016.9:g.57718021dup, XM_005255842.5:c.1200dup, XM_005255842.4:c.1200dup, XM_005255842.3:c.1200dup, XM_005255842.2:c.1200dup, XM_005255842.1:c.1200dup, NM_170776.5:c.1059dup, NM_170776.4:c.1059dup, NM_001308360.2:c.699dup, NM_001308360.1:c.699dup, XM_047433780.1:c.1089dup, XM_047433781.1:c.840dup, XM_047433783.1:c.*55dup, XP_005255899.1:p.Thr401fs, NP_740746.4:p.Thr354fs, NP_001295289.1:p.Thr234fs, XP_047289736.1:p.Thr364fs, XP_047289737.1:p.Thr281fs

Select item 146346082612.

rs1463460826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:57688366 (GRCh38)
16:57722278 (GRCh37)
Canonical SPDI:: NC_000016.10:57688365:T:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57688366T>G, NC_000016.9:g.57722278T>G, XM_005255842.5:c.1696T>G, XM_005255842.4:c.1696T>G, XM_005255842.3:c.1696T>G, XM_005255842.2:c.1696T>G, XM_005255842.1:c.1696T>G, NM_170776.5:c.1555T>G, NM_170776.4:c.1555T>G, XM_006721170.5:c.896T>G, XM_006721170.4:c.896T>G, XM_006721170.3:c.896T>G, XM_006721170.2:c.896T>G, XM_006721170.1:c.896T>G, XM_011522953.4:c.1180T>G, XM_011522953.3:c.1180T>G, XM_011522953.2:c.1180T>G, XM_011522953.1:c.1180T>G, XM_011522954.3:c.783T>G, XM_011522954.2:c.783T>G, XM_011522954.1:c.783T>G, NM_001308360.2:c.1195T>G, NM_001308360.1:c.1195T>G, XM_047433780.1:c.1585T>G, XM_047433781.1:c.1336T>G, XP_005255899.1:p.Cys566Gly, NP_740746.4:p.Cys519Gly, XP_006721233.1:p.Leu299Arg, XP_011521255.1:p.Cys394Gly, NP_001295289.1:p.Cys399Gly, XP_047289736.1:p.Cys529Gly, XP_047289737.1:p.Cys446Gly

Select item 146026612613.

rs1460266126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:57680314 (GRCh38)
16:57714226 (GRCh37)
Canonical SPDI:: NC_000016.10:57680313:T:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57680314T>C, NC_000016.9:g.57714226T>C, XM_005255842.5:c.717T>C, XM_005255842.4:c.717T>C, XM_005255842.3:c.717T>C, XM_005255842.2:c.717T>C, XM_005255842.1:c.717T>C, NM_170776.5:c.717T>C, NM_170776.4:c.717T>C, XM_006721170.5:c.717T>C, XM_006721170.4:c.717T>C, XM_006721170.3:c.717T>C, XM_006721170.2:c.717T>C, XM_006721170.1:c.717T>C, XM_011522953.4:c.717T>C, XM_011522953.3:c.717T>C, XM_011522953.2:c.717T>C, XM_011522953.1:c.717T>C, XM_011522954.3:c.717T>C, XM_011522954.2:c.717T>C, XM_011522954.1:c.717T>C, NM_001308360.2:c.357T>C, NM_001308360.1:c.357T>C, XM_047433780.1:c.606T>C, XM_047433781.1:c.357T>C, XM_047433782.1:c.717T>C, XM_047433783.1:c.717T>C

Select item 145765166914.

rs1457651669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:57685647 (GRCh38)
16:57719559 (GRCh37)
Canonical SPDI:: NC_000016.10:57685646:T:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.57685647T>C, NC_000016.9:g.57719559T>C, XM_005255842.5:c.1402T>C, XM_005255842.4:c.1402T>C, XM_005255842.3:c.1402T>C, XM_005255842.2:c.1402T>C, XM_005255842.1:c.1402T>C, NM_170776.5:c.1261T>C, NM_170776.4:c.1261T>C, XM_011522953.4:c.886T>C, XM_011522953.3:c.886T>C, XM_011522953.2:c.886T>C, XM_011522953.1:c.886T>C, NM_001308360.2:c.901T>C, NM_001308360.1:c.901T>C, XM_047433780.1:c.1291T>C, XM_047433781.1:c.1042T>C, XM_047433782.1:c.*32T>C, XP_005255899.1:p.Trp468Arg, NP_740746.4:p.Trp421Arg, XP_011521255.1:p.Trp296Arg, NP_001295289.1:p.Trp301Arg, XP_047289736.1:p.Trp431Arg, XP_047289737.1:p.Trp348Arg

Select item 145763641815.

rs1457636418 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:57679283 (GRCh38)
16:57713195 (GRCh37)
Canonical SPDI:: NC_000016.10:57679282:T:C,NC_000016.10:57679282:T:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.57679283T>C, NC_000016.10:g.57679283T>G, NC_000016.9:g.57713195T>C, NC_000016.9:g.57713195T>G, XM_005255842.5:c.599T>C, XM_005255842.5:c.599T>G, XM_005255842.4:c.599T>C, XM_005255842.4:c.599T>G, XM_005255842.3:c.599T>C, XM_005255842.3:c.599T>G, XM_005255842.2:c.599T>C, XM_005255842.2:c.599T>G, XM_005255842.1:c.599T>C, XM_005255842.1:c.599T>G, NM_170776.5:c.599T>C, NM_170776.5:c.599T>G, NM_170776.4:c.599T>C, NM_170776.4:c.599T>G, XM_006721170.5:c.599T>C, XM_006721170.5:c.599T>G, XM_006721170.4:c.599T>C, XM_006721170.4:c.599T>G, XM_006721170.3:c.599T>C, XM_006721170.3:c.599T>G, XM_006721170.2:c.599T>C, XM_006721170.2:c.599T>G, XM_006721170.1:c.599T>C, XM_006721170.1:c.599T>G, XM_011522953.4:c.599T>C, XM_011522953.4:c.599T>G, XM_011522953.3:c.599T>C, XM_011522953.3:c.599T>G, XM_011522953.2:c.599T>C, XM_011522953.2:c.599T>G, XM_011522953.1:c.599T>C, XM_011522953.1:c.599T>G, XM_011522954.3:c.599T>C, XM_011522954.3:c.599T>G, XM_011522954.2:c.599T>C, XM_011522954.2:c.599T>G, XM_011522954.1:c.599T>C, XM_011522954.1:c.599T>G, NM_001308360.2:c.239T>C, NM_001308360.2:c.239T>G, NM_001308360.1:c.239T>C, NM_001308360.1:c.239T>G, XM_047433780.1:c.488T>C, XM_047433780.1:c.488T>G, XM_047433781.1:c.239T>C, XM_047433781.1:c.239T>G, XM_047433782.1:c.599T>C, XM_047433782.1:c.599T>G, XM_047433783.1:c.599T>C, XM_047433783.1:c.599T>G, XP_005255899.1:p.Ile200Thr, XP_005255899.1:p.Ile200Ser, NP_740746.4:p.Ile200Thr, NP_740746.4:p.Ile200Ser, XP_006721233.1:p.Ile200Thr, XP_006721233.1:p.Ile200Ser, XP_011521255.1:p.Ile200Thr, XP_011521255.1:p.Ile200Ser, XP_011521256.1:p.Ile200Thr, XP_011521256.1:p.Ile200Ser, NP_001295289.1:p.Ile80Thr, NP_001295289.1:p.Ile80Ser, XP_047289736.1:p.Ile163Thr, XP_047289736.1:p.Ile163Ser, XP_047289737.1:p.Ile80Thr, XP_047289737.1:p.Ile80Ser, XP_047289738.1:p.Ile200Thr, XP_047289738.1:p.Ile200Ser, XP_047289739.1:p.Ile200Thr, XP_047289739.1:p.Ile200Ser

Select item 145647169816.

rs1456471698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:57688378 (GRCh38)
16:57722290 (GRCh37)
Canonical SPDI:: NC_000016.10:57688377:A:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.57688378A>G, NC_000016.9:g.57722290A>G, XM_005255842.5:c.1708A>G, XM_005255842.4:c.1708A>G, XM_005255842.3:c.1708A>G, XM_005255842.2:c.1708A>G, XM_005255842.1:c.1708A>G, NM_170776.5:c.1567A>G, NM_170776.4:c.1567A>G, XM_006721170.5:c.908A>G, XM_006721170.4:c.908A>G, XM_006721170.3:c.908A>G, XM_006721170.2:c.908A>G, XM_006721170.1:c.908A>G, XM_011522953.4:c.1192A>G, XM_011522953.3:c.1192A>G, XM_011522953.2:c.1192A>G, XM_011522953.1:c.1192A>G, XM_011522954.3:c.795A>G, XM_011522954.2:c.795A>G, XM_011522954.1:c.795A>G, NM_001308360.2:c.1207A>G, NM_001308360.1:c.1207A>G, XM_047433780.1:c.1597A>G, XM_047433781.1:c.1348A>G, XP_005255899.1:p.Ile570Val, NP_740746.4:p.Ile523Val, XP_006721233.1:p.His303Arg, XP_011521255.1:p.Ile398Val, NP_001295289.1:p.Ile403Val, XP_047289736.1:p.Ile533Val, XP_047289737.1:p.Ile450Val

Select item 145640767617.

rs1456407676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:57684458 (GRCh38)
16:57718370 (GRCh37)
Canonical SPDI:: NC_000016.10:57684457:A:G
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000016.10:g.57684458A>G, NC_000016.9:g.57718370A>G, XM_005255842.5:c.1372A>G, XM_005255842.4:c.1372A>G, XM_005255842.3:c.1372A>G, XM_005255842.2:c.1372A>G, XM_005255842.1:c.1372A>G, NM_170776.5:c.1231A>G, NM_170776.4:c.1231A>G, NM_001308360.2:c.871A>G, NM_001308360.1:c.871A>G, XM_047433780.1:c.1261A>G, XM_047433781.1:c.1012A>G, XM_047433782.1:c.*2A>G, XP_005255899.1:p.Arg458Gly, NP_740746.4:p.Arg411Gly, NP_001295289.1:p.Arg291Gly, XP_047289736.1:p.Arg421Gly, XP_047289737.1:p.Arg338Gly

Select item 145632846218.

rs1456328462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:57684167 (GRCh38)
16:57718079 (GRCh37)
Canonical SPDI:: NC_000016.10:57684166:A:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.57684167A>C, NC_000016.9:g.57718079A>C, XM_005255842.5:c.1258A>C, XM_005255842.4:c.1258A>C, XM_005255842.3:c.1258A>C, XM_005255842.2:c.1258A>C, XM_005255842.1:c.1258A>C, NM_170776.5:c.1117A>C, NM_170776.4:c.1117A>C, NM_001308360.2:c.757A>C, NM_001308360.1:c.757A>C, XM_047433780.1:c.1147A>C, XM_047433781.1:c.898A>C, XM_047433783.1:c.*113A>C, XP_005255899.1:p.Thr420Pro, NP_740746.4:p.Thr373Pro, NP_001295289.1:p.Thr253Pro, XP_047289736.1:p.Thr383Pro, XP_047289737.1:p.Thr300Pro

Select item 145389056119.

rs1453890561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:57684434 (GRCh38)
16:57718346 (GRCh37)
Canonical SPDI:: NC_000016.10:57684433:T:C
Gene:: ADGRG3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.57684434T>C, NC_000016.9:g.57718346T>C, XM_005255842.5:c.1348T>C, XM_005255842.4:c.1348T>C, XM_005255842.3:c.1348T>C, XM_005255842.2:c.1348T>C, XM_005255842.1:c.1348T>C, NM_170776.5:c.1207T>C, NM_170776.4:c.1207T>C, NM_001308360.2:c.847T>C, NM_001308360.1:c.847T>C, XM_047433780.1:c.1237T>C, XM_047433781.1:c.988T>C, XM_047433782.1:c.926T>C, XP_005255899.1:p.Tyr450His, NP_740746.4:p.Tyr403His, NP_001295289.1:p.Tyr283His, XP_047289736.1:p.Tyr413His, XP_047289737.1:p.Tyr330His, XP_047289738.1:p.Leu309Pro

Select item 145367932620.

rs1453679326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:57688364 (GRCh38)
16:57722276 (GRCh37)
Canonical SPDI:: NC_000016.10:57688363:G:T
Gene:: ADGRG3 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.57688364G>T, NC_000016.9:g.57722276G>T, XM_005255842.5:c.1694G>T, XM_005255842.4:c.1694G>T, XM_005255842.3:c.1694G>T, XM_005255842.2:c.1694G>T, XM_005255842.1:c.1694G>T, NM_170776.5:c.1553G>T, NM_170776.4:c.1553G>T, XM_006721170.5:c.894G>T, XM_006721170.4:c.894G>T, XM_006721170.3:c.894G>T, XM_006721170.2:c.894G>T, XM_006721170.1:c.894G>T, XM_011522953.4:c.1178G>T, XM_011522953.3:c.1178G>T, XM_011522953.2:c.1178G>T, XM_011522953.1:c.1178G>T, XM_011522954.3:c.781G>T, XM_011522954.2:c.781G>T, XM_011522954.1:c.781G>T, NM_001308360.2:c.1193G>T, NM_001308360.1:c.1193G>T, XM_047433780.1:c.1583G>T, XM_047433781.1:c.1334G>T, XP_005255899.1:p.Cys565Phe, NP_740746.4:p.Cys518Phe, XP_011521255.1:p.Cys393Phe, XP_011521256.1:p.Ala261Ser, NP_001295289.1:p.Cys398Phe, XP_047289736.1:p.Cys528Phe, XP_047289737.1:p.Cys445Phe

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