Linked Data
ClinVar Variation Id:
197463
dbSNP Id:
rs142483266
ExAC:
2:71883294 C / G
gnomAD v2:
2-71883294-C-G
gnomAD v3:
2-71656164-C-G
gnomAD v4:
2-71656164-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71656164C>G , CM000664.2:g.71656164C>G | GRCh38 |
| NC_000002.11:g.71883294C>G , CM000664.1:g.71883294C>G | GRCh37 |
| NC_000002.10:g.71736802C>G | NCBI36 |
| NG_008694.1:g.207542C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2043C>G | ENSP00000513536.1:p.Val681= | |
| ENST00000698058.1:c.1260C>G | ENSP00000513537.1:p.Val420= | |
| ENST00000698059.1:c.1368C>G | ENSP00000513538.1:p.Val456= | |
| ENST00000258104.8:c.4512C>G MANE Plus Clinical | ENSP00000258104.3:p.Val1504= | |
| ENST00000410020.8:c.4629C>G MANE Select | ENSP00000386881.3:p.Val1543= | |
| ENST00000258104.7:c.4512C>G | ENSP00000258104.3:p.Val1504= | |
| ENST00000394120.6:c.4515C>G | ENSP00000377678.2:p.Val1505= | |
| ENST00000409366.5:c.4578C>G | ENSP00000386512.1:p.Val1526= | |
| ENST00000409582.7:c.4626C>G | ENSP00000386547.3:p.Val1542= | |
| ENST00000409651.5:c.4608C>G | ENSP00000386683.1:p.Val1536= | |
| ENST00000409744.5:c.4536C>G | ENSP00000386285.1:p.Val1512= | |
| ENST00000409762.5:c.4563C>G | ENSP00000387137.1:p.Val1521= | |
| ENST00000410020.7:c.4629C>G | ENSP00000386881.3:p.Val1543= | |
| ENST00000410041.1:c.4566C>G | ENSP00000386617.1:p.Val1522= | |
| ENST00000413539.6:c.4605C>G | ENSP00000407046.2:p.Val1535= | |
| ENST00000429174.6:c.4575C>G | ENSP00000398305.2:p.Val1525= | |
| ENST00000479049.6:n.1397C>G | ||
| NM_001130455.1:c.4515C>G | NP_001123927.1:p.Val1505= | |
| NM_001130976.1:c.4470C>G | NP_001124448.1:p.Val1490= | |
| NM_001130977.1:c.4533C>G | NP_001124449.1:p.Val1511= | |
| NM_001130978.1:c.4575C>G | NP_001124450.1:p.Val1525= | |
| NM_001130979.1:c.4605C>G | NP_001124451.1:p.Val1535= | |
| NM_001130980.1:c.4563C>G | NP_001124452.1:p.Val1521= | |
| NM_001130981.1:c.4626C>G | NP_001124453.1:p.Val1542= | |
| NM_001130982.1:c.4608C>G | NP_001124454.1:p.Val1536= | |
| NM_001130983.1:c.4578C>G | NP_001124455.1:p.Val1526= | |
| NM_001130984.1:c.4536C>G | NP_001124456.1:p.Val1512= | |
| NM_001130985.1:c.4566C>G | NP_001124457.1:p.Val1522= | |
| NM_001130986.1:c.4473C>G | NP_001124458.1:p.Val1491= | |
| NM_001130987.1:c.4629C>G | NP_001124459.1:p.Val1543= | |
| NM_003494.3:c.4512C>G | NP_003485.1:p.Val1504= | |
| XM_005264584.3:c.4671C>G | XP_005264641.1:p.Val1557= | |
| XM_005264585.3:c.4668C>G | XP_005264642.1:p.Val1556= | |
| XM_005264584.4:c.4671C>G | XP_005264641.1:p.Val1557= | |
| XM_005264585.5:c.4668C>G | XP_005264642.1:p.Val1556= | |
| XR_001738969.1:n.4829C>G | ||
| NM_001130987.2:c.4629C>G MANE Select | NP_001124459.1:p.Val1543= | |
| NM_001130455.2:c.4515C>G | NP_001123927.1:p.Val1505= | |
| NM_001130976.2:c.4470C>G | NP_001124448.1:p.Val1490= | |
| NM_001130977.2:c.4533C>G | NP_001124449.1:p.Val1511= | |
| NM_001130978.2:c.4575C>G | NP_001124450.1:p.Val1525= | |
| NM_001130979.2:c.4605C>G | NP_001124451.1:p.Val1535= | |
| NM_001130980.2:c.4563C>G | NP_001124452.1:p.Val1521= | |
| NM_001130981.2:c.4626C>G | NP_001124453.1:p.Val1542= | |
| NM_001130982.2:c.4608C>G | NP_001124454.1:p.Val1536= | |
| NM_001130983.2:c.4578C>G | NP_001124455.1:p.Val1526= | |
| NM_001130984.2:c.4536C>G | NP_001124456.1:p.Val1512= | |
| NM_001130985.2:c.4566C>G | NP_001124457.1:p.Val1522= | |
| NM_001130986.2:c.4473C>G | NP_001124458.1:p.Val1491= | |
| NM_003494.4:c.4512C>G MANE Plus Clinical | NP_003485.1:p.Val1504= |