SNP Links for Protein (Select 1149123045) - SNP

Links from Protein

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Select item 14903105921.

rs1490310592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:87561268 (GRCh38)
7:87190584 (GRCh37)
Canonical SPDI:: NC_000007.14:87561267:A:G
Gene:: ABCB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.87561268A>G, NC_000007.13:g.87190584A>G, NG_011513.1:g.156981T>C, NM_000927.5:c.822T>C, NM_000927.4:c.822T>C, NM_001348945.2:c.1032T>C, NM_001348945.1:c.1032T>C, NM_001348944.2:c.822T>C, NM_001348944.1:c.822T>C, NM_001348946.2:c.822T>C, NM_001348946.1:c.822T>C

Select item 14900834562.

rs1490083456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:87505916 (GRCh38)
7:87135232 (GRCh37)
Canonical SPDI:: NC_000007.14:87505915:A:C
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.87505916A>C, NC_000007.13:g.87135232A>C, NG_011513.1:g.212333T>G, NM_000927.5:c.3617T>G, NM_000927.4:c.3617T>G, NM_001348945.2:c.3827T>G, NM_001348945.1:c.3827T>G, NM_001348944.2:c.3617T>G, NM_001348944.1:c.3617T>G, NM_001348946.2:c.3617T>G, NM_001348946.1:c.3617T>G, NP_000918.2:p.Leu1206Arg, NP_001335874.1:p.Leu1276Arg, NP_001335873.1:p.Leu1206Arg, NP_001335875.1:p.Leu1206Arg

Select item 14900348653.

rs1490034865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:87566814 (GRCh38)
7:87196130 (GRCh37)
Canonical SPDI:: NC_000007.14:87566813:A:G
Gene:: ABCB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87566814A>G, NC_000007.13:g.87196130A>G, NG_011513.1:g.151435T>C, NM_000927.5:c.501T>C, NM_000927.4:c.501T>C, NM_001348945.2:c.711T>C, NM_001348945.1:c.711T>C, NM_001348944.2:c.501T>C, NM_001348944.1:c.501T>C, NM_001348946.2:c.501T>C, NM_001348946.1:c.501T>C

Select item 14895943244.

rs1489594324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:87519422 (GRCh38)
7:87148738 (GRCh37)
Canonical SPDI:: NC_000007.14:87519421:A:G
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.87519422A>G, NC_000007.13:g.87148738A>G, NG_011513.1:g.198827T>C, NM_000927.5:c.2831T>C, NM_000927.4:c.2831T>C, NM_001348945.2:c.3041T>C, NM_001348945.1:c.3041T>C, NM_001348944.2:c.2831T>C, NM_001348944.1:c.2831T>C, NM_001348946.2:c.2831T>C, NM_001348946.1:c.2831T>C, NP_000918.2:p.Phe944Ser, NP_001335874.1:p.Phe1014Ser, NP_001335873.1:p.Phe944Ser, NP_001335875.1:p.Phe944Ser

Select item 14885725115.

rs1488572511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:87549994 (GRCh38)
7:87179310 (GRCh37)
Canonical SPDI:: NC_000007.14:87549993:C:A
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87549994C>A, NC_000007.13:g.87179310C>A, NG_011513.1:g.168255G>T, NM_000927.5:c.1411G>T, NM_000927.4:c.1411G>T, NM_001348945.2:c.1621G>T, NM_001348945.1:c.1621G>T, NM_001348944.2:c.1411G>T, NM_001348944.1:c.1411G>T, NM_001348946.2:c.1411G>T, NM_001348946.1:c.1411G>T, NP_000918.2:p.Gly471Cys, NP_001335874.1:p.Gly541Cys, NP_001335873.1:p.Gly471Cys, NP_001335875.1:p.Gly471Cys

Select item 14860265246.

rs1486026524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:87519404 (GRCh38)
7:87148720 (GRCh37)
Canonical SPDI:: NC_000007.14:87519403:T:C
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87519404T>C, NC_000007.13:g.87148720T>C, NG_011513.1:g.198845A>G, NM_000927.5:c.2849A>G, NM_000927.4:c.2849A>G, NM_001348945.2:c.3059A>G, NM_001348945.1:c.3059A>G, NM_001348944.2:c.2849A>G, NM_001348944.1:c.2849A>G, NM_001348946.2:c.2849A>G, NM_001348946.1:c.2849A>G, NP_000918.2:p.Tyr950Cys, NP_001335874.1:p.Tyr1020Cys, NP_001335873.1:p.Tyr950Cys, NP_001335875.1:p.Tyr950Cys

Select item 14828376117.

rs1482837611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:87509324 (GRCh38)
7:87138640 (GRCh37)
Canonical SPDI:: NC_000007.14:87509323:C:A,NC_000007.14:87509323:C:G,NC_000007.14:87509323:C:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87509324C>A, NC_000007.14:g.87509324C>G, NC_000007.14:g.87509324C>T, NC_000007.13:g.87138640C>A, NC_000007.13:g.87138640C>G, NC_000007.13:g.87138640C>T, NG_011513.1:g.208925G>T, NG_011513.1:g.208925G>C, NG_011513.1:g.208925G>A, NM_000927.5:c.3440G>T, NM_000927.5:c.3440G>C, NM_000927.5:c.3440G>A, NM_000927.4:c.3440G>T, NM_000927.4:c.3440G>C, NM_000927.4:c.3440G>A, NM_001348945.2:c.3650G>T, NM_001348945.2:c.3650G>C, NM_001348945.2:c.3650G>A, NM_001348945.1:c.3650G>T, NM_001348945.1:c.3650G>C, NM_001348945.1:c.3650G>A, NM_001348944.2:c.3440G>T, NM_001348944.2:c.3440G>C, NM_001348944.2:c.3440G>A, NM_001348944.1:c.3440G>T, NM_001348944.1:c.3440G>C, NM_001348944.1:c.3440G>A, NM_001348946.2:c.3440G>T, NM_001348946.2:c.3440G>C, NM_001348946.2:c.3440G>A, NM_001348946.1:c.3440G>T, NM_001348946.1:c.3440G>C, NM_001348946.1:c.3440G>A, NP_000918.2:p.Arg1147Met, NP_000918.2:p.Arg1147Thr, NP_000918.2:p.Arg1147Lys, NP_001335874.1:p.Arg1217Met, NP_001335874.1:p.Arg1217Thr, NP_001335874.1:p.Arg1217Lys, NP_001335873.1:p.Arg1147Met, NP_001335873.1:p.Arg1147Thr, NP_001335873.1:p.Arg1147Lys, NP_001335875.1:p.Arg1147Met, NP_001335875.1:p.Arg1147Thr, NP_001335875.1:p.Arg1147Lys

Select item 14815623068.

rs1481562306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:87520793 (GRCh38)
7:87150109 (GRCh37)
Canonical SPDI:: NC_000007.14:87520792:A:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.87520793A>T, NC_000007.13:g.87150109A>T, NG_011513.1:g.197456T>A, NM_000927.5:c.2769T>A, NM_000927.4:c.2769T>A, NM_001348945.2:c.2979T>A, NM_001348945.1:c.2979T>A, NM_001348944.2:c.2769T>A, NM_001348944.1:c.2769T>A, NM_001348946.2:c.2769T>A, NM_001348946.1:c.2769T>A, NP_000918.2:p.Ser923Arg, NP_001335874.1:p.Ser993Arg, NP_001335873.1:p.Ser923Arg, NP_001335875.1:p.Ser923Arg

Select item 14802442589.

rs1480244258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:87544974 (GRCh38)
7:87174290 (GRCh37)
Canonical SPDI:: NC_000007.14:87544973:T:G
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.87544974T>G, NC_000007.13:g.87174290T>G, NG_011513.1:g.173275A>C, NM_000927.5:c.1913A>C, NM_000927.4:c.1913A>C, NM_001348945.2:c.2123A>C, NM_001348945.1:c.2123A>C, NM_001348944.2:c.1913A>C, NM_001348944.1:c.1913A>C, NM_001348946.2:c.1913A>C, NM_001348946.1:c.1913A>C, NP_000918.2:p.Glu638Ala, NP_001335874.1:p.Glu708Ala, NP_001335873.1:p.Glu638Ala, NP_001335875.1:p.Glu638Ala

Select item 147810266310.

rs1478102663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:87544919 (GRCh38)
7:87174235 (GRCh37)
Canonical SPDI:: NC_000007.14:87544918:A:C
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87544919A>C, NC_000007.13:g.87174235A>C, NG_011513.1:g.173330T>G, NM_000927.5:c.1968T>G, NM_000927.4:c.1968T>G, NM_001348945.2:c.2178T>G, NM_001348945.1:c.2178T>G, NM_001348944.2:c.1968T>G, NM_001348944.1:c.1968T>G, NM_001348946.2:c.1968T>G, NM_001348946.1:c.1968T>G, NP_000918.2:p.Asn656Lys, NP_001335874.1:p.Asn726Lys, NP_001335873.1:p.Asn656Lys, NP_001335875.1:p.Asn656Lys

Select item 147701841011.

rs1477018410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:87549481 (GRCh38)
7:87178797 (GRCh37)
Canonical SPDI:: NC_000007.14:87549480:A:C
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.87549481A>C, NC_000007.13:g.87178797A>C, NG_011513.1:g.168768T>G, NM_000927.5:c.1592T>G, NM_000927.4:c.1592T>G, NM_001348945.2:c.1802T>G, NM_001348945.1:c.1802T>G, NM_001348944.2:c.1592T>G, NM_001348944.1:c.1592T>G, NM_001348946.2:c.1592T>G, NM_001348946.1:c.1592T>G, NP_000918.2:p.Leu531Trp, NP_001335874.1:p.Leu601Trp, NP_001335873.1:p.Leu531Trp, NP_001335875.1:p.Leu531Trp

Select item 147658784612.

rs1476587846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:87550287 (GRCh38)
7:87179603 (GRCh37)
Canonical SPDI:: NC_000007.14:87550286:C:G,NC_000007.14:87550286:C:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.87550287C>G, NC_000007.14:g.87550287C>T, NC_000007.13:g.87179603C>G, NC_000007.13:g.87179603C>T, NG_011513.1:g.167962G>C, NG_011513.1:g.167962G>A, NM_000927.5:c.1234G>C, NM_000927.5:c.1234G>A, NM_000927.4:c.1234G>C, NM_000927.4:c.1234G>A, NM_001348945.2:c.1444G>C, NM_001348945.2:c.1444G>A, NM_001348945.1:c.1444G>C, NM_001348945.1:c.1444G>A, NM_001348944.2:c.1234G>C, NM_001348944.2:c.1234G>A, NM_001348944.1:c.1234G>C, NM_001348944.1:c.1234G>A, NM_001348946.2:c.1234G>C, NM_001348946.2:c.1234G>A, NM_001348946.1:c.1234G>C, NM_001348946.1:c.1234G>A, NP_000918.2:p.Gly412Arg, NP_000918.2:p.Gly412Ser, NP_001335874.1:p.Gly482Arg, NP_001335874.1:p.Gly482Ser, NP_001335873.1:p.Gly412Arg, NP_001335873.1:p.Gly412Ser, NP_001335875.1:p.Gly412Arg, NP_001335875.1:p.Gly412Ser

Select item 147611331513.

rs1476113315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:87550025 (GRCh38)
7:87179341 (GRCh37)
Canonical SPDI:: NC_000007.14:87550024:G:T
Gene:: ABCB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.87550025G>T, NC_000007.13:g.87179341G>T, NG_011513.1:g.168224C>A, NM_000927.5:c.1380C>A, NM_000927.4:c.1380C>A, NM_001348945.2:c.1590C>A, NM_001348945.1:c.1590C>A, NM_001348944.2:c.1380C>A, NM_001348944.1:c.1380C>A, NM_001348946.2:c.1380C>A, NM_001348946.1:c.1380C>A

Select item 147562989114.

rs1475629891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:87550039 (GRCh38)
7:87179355 (GRCh37)
Canonical SPDI:: NC_000007.14:87550038:G:C
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.87550039G>C, NC_000007.13:g.87179355G>C, NG_011513.1:g.168210C>G, NM_000927.5:c.1366C>G, NM_000927.4:c.1366C>G, NM_001348945.2:c.1576C>G, NM_001348945.1:c.1576C>G, NM_001348944.2:c.1366C>G, NM_001348944.1:c.1366C>G, NM_001348946.2:c.1366C>G, NM_001348946.1:c.1366C>G, NP_000918.2:p.Gln456Glu, NP_001335874.1:p.Gln526Glu, NP_001335873.1:p.Gln456Glu, NP_001335875.1:p.Gln456Glu

Select item 147531108715.

rs1475311087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:87515275 (GRCh38)
7:87144591 (GRCh37)
Canonical SPDI:: NC_000007.14:87515274:C:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.87515275C>T, NC_000007.13:g.87144591C>T, NG_011513.1:g.202974G>A, NM_000927.5:c.3238G>A, NM_000927.4:c.3238G>A, NM_001348945.2:c.3448G>A, NM_001348945.1:c.3448G>A, NM_001348944.2:c.3238G>A, NM_001348944.1:c.3238G>A, NM_001348946.2:c.3238G>A, NM_001348946.1:c.3238G>A, NP_000918.2:p.Val1080Ile, NP_001335874.1:p.Val1150Ile, NP_001335873.1:p.Val1080Ile, NP_001335875.1:p.Val1080Ile

Select item 147465055216.

rs1474650552 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:87544203 (GRCh38)
7:87173519 (GRCh37)
Canonical SPDI:: NC_000007.14:87544202:C:
Gene:: ABCB1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000027/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.87544203del, NC_000007.13:g.87173519del, NG_011513.1:g.174046del, NM_000927.5:c.2137del, NM_000927.4:c.2137del, NM_001348945.2:c.2347del, NM_001348945.1:c.2347del, NM_001348944.2:c.2137del, NM_001348944.1:c.2137del, NM_001348946.2:c.2137del, NM_001348946.1:c.2137del, NP_000918.2:p.Val713fs, NP_001335874.1:p.Val783fs, NP_001335873.1:p.Val713fs, NP_001335875.1:p.Val713fs

Select item 147323777317.

rs1473237773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:87506016 (GRCh38)
7:87135332 (GRCh37)
Canonical SPDI:: NC_000007.14:87506015:C:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.87506016C>T, NC_000007.13:g.87135332C>T, NG_011513.1:g.212233G>A, NM_000927.5:c.3517G>A, NM_000927.4:c.3517G>A, NM_001348945.2:c.3727G>A, NM_001348945.1:c.3727G>A, NM_001348944.2:c.3517G>A, NM_001348944.1:c.3517G>A, NM_001348946.2:c.3517G>A, NM_001348946.1:c.3517G>A, NP_000918.2:p.Gly1173Arg, NP_001335874.1:p.Gly1243Arg, NP_001335873.1:p.Gly1173Arg, NP_001335875.1:p.Gly1173Arg

Select item 147059850718.

rs1470598507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:87504341 (GRCh38)
7:87133657 (GRCh37)
Canonical SPDI:: NC_000007.14:87504340:C:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.87504341C>T, NC_000007.13:g.87133657C>T, NG_011513.1:g.213908G>A, NM_000927.5:c.3745G>A, NM_000927.4:c.3745G>A, NM_001348945.2:c.3955G>A, NM_001348945.1:c.3955G>A, NM_001348944.2:c.3745G>A, NM_001348944.1:c.3745G>A, NM_001348946.2:c.3745G>A, NM_001348946.1:c.3745G>A, NP_000918.2:p.Gly1249Ser, NP_001335874.1:p.Gly1319Ser, NP_001335873.1:p.Gly1249Ser, NP_001335875.1:p.Gly1249Ser

Select item 147027365019.

rs1470273650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:87509457 (GRCh38)
7:87138773 (GRCh37)
Canonical SPDI:: NC_000007.14:87509456:G:A
Gene:: ABCB1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.87509457G>A, NC_000007.13:g.87138773G>A, NG_011513.1:g.208792C>T, NM_000927.5:c.3307C>T, NM_000927.4:c.3307C>T, NM_001348945.2:c.3517C>T, NM_001348945.1:c.3517C>T, NM_001348944.2:c.3307C>T, NM_001348944.1:c.3307C>T, NM_001348946.2:c.3307C>T, NM_001348946.1:c.3307C>T, NP_000918.2:p.Arg1103Ter, NP_001335874.1:p.Arg1173Ter, NP_001335873.1:p.Arg1103Ter, NP_001335875.1:p.Arg1103Ter

Select item 146911672820.

rs1469116728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:87550181 (GRCh38)
7:87179497 (GRCh37)
Canonical SPDI:: NC_000007.14:87550180:G:T
Gene:: ABCB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.87550181G>T, NC_000007.13:g.87179497G>T, NG_011513.1:g.168068C>A, NM_000927.5:c.1340C>A, NM_000927.4:c.1340C>A, NM_001348945.2:c.1550C>A, NM_001348945.1:c.1550C>A, NM_001348944.2:c.1340C>A, NM_001348944.1:c.1340C>A, NM_001348946.2:c.1340C>A, NM_001348946.1:c.1340C>A, NP_000918.2:p.Thr447Lys, NP_001335874.1:p.Thr517Lys, NP_001335873.1:p.Thr447Lys, NP_001335875.1:p.Thr447Lys

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