Linked Data
ClinVar Variation Id:
90014
ClinVar RCV Id:
RCV000075499
RCV000215428
RCV000481137
RCV000411954
RCV000524272
RCV000763106
RCV001093679
RCV001356525
RCV003915039
dbSNP Id:
rs63751275
ExAC:
3:37090464 C / T
gnomAD v2:
3-37090464-C-T
gnomAD v3:
3-37048973-C-T
gnomAD v4:
3-37048973-C-T
PubMed:
PMID:11139242
PMID:11748856
PMID:11920458
PMID:11920650
PMID:12362047
PMID:14762794
PMID:15845562
PMID:16042583
PMID:16288214
PMID:16395668
PMID:16451135
PMID:17192056
PMID:17312306
PMID:17510385
PMID:18383312
PMID:18566915
PMID:18709565
PMID:19267393
PMID:19697156
PMID:21120944
PMID:21376568
PMID:22290698
PMID:22736432
PMID:22949379
PMID:23760103
PMID:24362816
PMID:24440087
PMID:25430799
PMID:25525159
PMID:27152634
PMID:27300758
PMID:27601186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048973C>T , CM000665.2:g.37048973C>T | GRCh38 |
| NC_000003.11:g.37090464C>T , CM000665.1:g.37090464C>T | GRCh37 |
| NC_000003.10:g.37065468C>T | NCBI36 |
| NG_007109.2:g.60624C>T , LRG_216:g.60624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1668-1513C>T | ENSP00000416476.2:n.1668-1513C>T | |
| ENST00000429117.6:c.1765C>T | ENSP00000407019.2:p.Arg589Trp | |
| ENST00000450420.6:c.1559-1513C>T | ENSP00000393006.2:n.1559-1513C>T | |
| ENST00000456676.7:c.1896+1290C>T | ENSP00000416687.3:n.1896+1290C>T | |
| ENST00000492474.6:c.1336C>T | ENSP00000518393.1:p.Arg446Trp | |
| ENST00000616768.6:c.1966C>T | ENSP00000480669.3:p.Arg656Trp | |
| ENST00000673673.2:c.1894C>T | ENSP00000500979.2:p.Arg632Trp | |
| ENST00000231790.8:c.2059C>T MANE Select | ENSP00000231790.3:p.Arg687Trp | |
| ENST00000413212.2:c.*977C>T | ENSP00000400844.2:n.*977C>T | |
| ENST00000432299.6:c.*1891C>T | ENSP00000416783.1:n.*1891C>T | |
| ENST00000447829.6:c.*1170C>T | ENSP00000399329.2:n.*1170C>T | |
| ENST00000539477.6:c.1336C>T | ENSP00000443665.1:p.Arg446Trp | |
| ENST00000616768.5:c.1003C>T | ENSP00000480669.2:p.Arg335Trp | |
| ENST00000673673.1:c.1847C>T | ||
| ENST00000673741.1:n.1093C>T | ||
| ENST00000673889.1:n.1441C>T | ||
| ENST00000673897.1:c.*1851C>T | ENSP00000501109.1:n.*1851C>T | |
| ENST00000673899.1:c.1327C>T | ENSP00000501030.1:p.Arg443Trp | |
| ENST00000673947.1:c.*2199C>T | ENSP00000501304.1:n.*2199C>T | |
| ENST00000673972.1:c.*1937C>T | ENSP00000501281.1:n.*1937C>T | |
| ENST00000674019.1:c.1336C>T | ENSP00000501081.1:p.Arg446Trp | |
| ENST00000674111.1:c.*288C>T | ENSP00000501162.1:n.*288C>T | |
| ENST00000674125.1:n.770C>T | ||
| ENST00000231790.6:c.2059C>T | ENSP00000231790.2:p.Arg687Trp | |
| ENST00000413740.1:c.291-1513C>T | ENSP00000416476.1:n.291-1513C>T | |
| ENST00000435176.5:c.1765C>T | ENSP00000402564.1:p.Arg589Trp | |
| ENST00000450420.5:c.182-1513C>T | ENSP00000393006.1:n.182-1513C>T | |
| ENST00000455445.6:c.1336C>T | ENSP00000398272.2:p.Arg446Trp | |
| ENST00000456676.6:c.1871+1290C>T | ||
| ENST00000458205.6:c.1336C>T | ENSP00000402667.2:p.Arg446Trp | |
| ENST00000536378.5:c.1336C>T | ENSP00000444286.2:p.Arg446Trp | |
| ENST00000539477.5:c.1336C>T | ENSP00000443665.1:p.Arg446Trp | |
| NM_000249.3:c.2059C>T , LRG_216t1:c.2059C>T | NP_000240.1:p.Arg687Trp | |
| NM_001167617.1:c.1765C>T | NP_001161089.1:p.Arg589Trp | |
| NM_001167618.1:c.1336C>T | NP_001161090.1:p.Arg446Trp | |
| NM_001167619.1:c.1336C>T | NP_001161091.1:p.Arg446Trp | |
| NM_001258271.1:c.1896+1290C>T | NP_001245200.1:n.1896+1290C>T | |
| NM_001258273.1:c.1336C>T | NP_001245202.1:p.Arg446Trp | |
| NM_001258274.1:c.1336C>T | NP_001245203.1:p.Arg446Trp | |
| XM_005265161.1:c.1852C>T | XP_005265218.1:p.Arg618Trp | |
| XM_005265163.1:c.1336C>T | XP_005265220.1:p.Arg446Trp | |
| XM_005265164.1:c.1336C>T | XP_005265221.1:p.Arg446Trp | |
| XM_005265166.1:c.1036C>T | XP_005265223.1:p.Arg346Trp | |
| XM_011533727.1:c.985C>T | XP_011532029.1:p.Arg329Trp | |
| NM_001167617.2:c.1765C>T | NP_001161089.1:p.Arg589Trp | |
| NM_001167618.2:c.1336C>T | NP_001161090.1:p.Arg446Trp | |
| NM_001167619.2:c.1336C>T | NP_001161091.1:p.Arg446Trp | |
| NM_001258274.2:c.1336C>T | NP_001245203.1:p.Arg446Trp | |
| NM_001354615.1:c.1336C>T | NP_001341544.1:p.Arg446Trp | |
| NM_001354616.1:c.1336C>T | NP_001341545.1:p.Arg446Trp | |
| NM_001354617.1:c.1336C>T | NP_001341546.1:p.Arg446Trp | |
| NM_001354618.1:c.1336C>T | NP_001341547.1:p.Arg446Trp | |
| NM_001354619.1:c.1336C>T | NP_001341548.1:p.Arg446Trp | |
| NM_001354620.1:c.1765C>T | NP_001341549.1:p.Arg589Trp | |
| NM_001354621.1:c.1036C>T | NP_001341550.1:p.Arg346Trp | |
| NM_001354622.1:c.1036C>T | NP_001341551.1:p.Arg346Trp | |
| NM_001354623.1:c.1036C>T | NP_001341552.1:p.Arg346Trp | |
| NM_001354624.1:c.985C>T | NP_001341553.1:p.Arg329Trp | |
| NM_001354625.1:c.985C>T | NP_001341554.1:p.Arg329Trp | |
| NM_001354626.1:c.985C>T | NP_001341555.1:p.Arg329Trp | |
| NM_001354627.1:c.985C>T | NP_001341556.1:p.Arg329Trp | |
| NM_001354628.1:c.1966C>T | NP_001341557.1:p.Arg656Trp | |
| NM_001354629.1:c.1960C>T | NP_001341558.1:p.Arg654Trp | |
| NM_001354630.1:c.1894C>T | NP_001341559.1:p.Arg632Trp | |
| XM_005265161.2:c.1852C>T | XP_005265218.1:p.Arg618Trp | |
| XM_017006450.2:c.1036C>T | XP_016861939.1:p.Arg346Trp | |
| NM_000249.4:c.2059C>T MANE Select | NP_000240.1:p.Arg687Trp | |
| NM_001167617.3:c.1765C>T | NP_001161089.1:p.Arg589Trp | |
| NM_001167618.3:c.1336C>T | NP_001161090.1:p.Arg446Trp | |
| NM_001167619.3:c.1336C>T | NP_001161091.1:p.Arg446Trp | |
| NM_001258271.2:c.1896+1290C>T | NP_001245200.1:n.1896+1290C>T | |
| NM_001258273.2:c.1336C>T | NP_001245202.1:p.Arg446Trp | |
| NM_001258274.3:c.1336C>T | NP_001245203.1:p.Arg446Trp | |
| NM_001354615.2:c.1336C>T | NP_001341544.1:p.Arg446Trp | |
| NM_001354616.2:c.1336C>T | NP_001341545.1:p.Arg446Trp | |
| NM_001354617.2:c.1336C>T | NP_001341546.1:p.Arg446Trp | |
| NM_001354618.2:c.1336C>T | NP_001341547.1:p.Arg446Trp | |
| NM_001354619.2:c.1336C>T | NP_001341548.1:p.Arg446Trp | |
| NM_001354620.2:c.1765C>T | NP_001341549.1:p.Arg589Trp | |
| NM_001354621.2:c.1036C>T | NP_001341550.1:p.Arg346Trp | |
| NM_001354622.2:c.1036C>T | NP_001341551.1:p.Arg346Trp | |
| NM_001354623.2:c.1036C>T | NP_001341552.1:p.Arg346Trp | |
| NM_001354624.2:c.985C>T | NP_001341553.1:p.Arg329Trp | |
| NM_001354625.2:c.985C>T | NP_001341554.1:p.Arg329Trp | |
| NM_001354626.2:c.985C>T | NP_001341555.1:p.Arg329Trp | |
| NM_001354627.2:c.985C>T | NP_001341556.1:p.Arg329Trp | |
| NM_001354628.2:c.1966C>T | NP_001341557.1:p.Arg656Trp | |
| NM_001354629.2:c.1960C>T | NP_001341558.1:p.Arg654Trp | |
| NM_001354630.2:c.1894C>T | NP_001341559.1:p.Arg632Trp |