Linked Data
ClinVar Variation Id:
471308
dbSNP Id:
rs143895253
ExAC:
2:71883292 G / A
gnomAD v2:
2-71883292-G-A
gnomAD v3:
2-71656162-G-A
gnomAD v4:
2-71656162-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71656162G>A , CM000664.2:g.71656162G>A | GRCh38 |
| NC_000002.11:g.71883292G>A , CM000664.1:g.71883292G>A | GRCh37 |
| NC_000002.10:g.71736800G>A | NCBI36 |
| NG_008694.1:g.207540G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2041G>A | ENSP00000513536.1:p.Val681Ile | |
| ENST00000698058.1:c.1258G>A | ENSP00000513537.1:p.Val420Ile | |
| ENST00000698059.1:c.1366G>A | ENSP00000513538.1:p.Val456Ile | |
| ENST00000258104.8:c.4510G>A MANE Plus Clinical | ENSP00000258104.3:p.Val1504Ile | |
| ENST00000410020.8:c.4627G>A MANE Select | ENSP00000386881.3:p.Val1543Ile | |
| ENST00000258104.7:c.4510G>A | ENSP00000258104.3:p.Val1504Ile | |
| ENST00000394120.6:c.4513G>A | ENSP00000377678.2:p.Val1505Ile | |
| ENST00000409366.5:c.4576G>A | ENSP00000386512.1:p.Val1526Ile | |
| ENST00000409582.7:c.4624G>A | ENSP00000386547.3:p.Val1542Ile | |
| ENST00000409651.5:c.4606G>A | ENSP00000386683.1:p.Val1536Ile | |
| ENST00000409744.5:c.4534G>A | ENSP00000386285.1:p.Val1512Ile | |
| ENST00000409762.5:c.4561G>A | ENSP00000387137.1:p.Val1521Ile | |
| ENST00000410020.7:c.4627G>A | ENSP00000386881.3:p.Val1543Ile | |
| ENST00000410041.1:c.4564G>A | ENSP00000386617.1:p.Val1522Ile | |
| ENST00000413539.6:c.4603G>A | ENSP00000407046.2:p.Val1535Ile | |
| ENST00000429174.6:c.4573G>A | ENSP00000398305.2:p.Val1525Ile | |
| ENST00000479049.6:n.1395G>A | ||
| NM_001130455.1:c.4513G>A | NP_001123927.1:p.Val1505Ile | |
| NM_001130976.1:c.4468G>A | NP_001124448.1:p.Val1490Ile | |
| NM_001130977.1:c.4531G>A | NP_001124449.1:p.Val1511Ile | |
| NM_001130978.1:c.4573G>A | NP_001124450.1:p.Val1525Ile | |
| NM_001130979.1:c.4603G>A | NP_001124451.1:p.Val1535Ile | |
| NM_001130980.1:c.4561G>A | NP_001124452.1:p.Val1521Ile | |
| NM_001130981.1:c.4624G>A | NP_001124453.1:p.Val1542Ile | |
| NM_001130982.1:c.4606G>A | NP_001124454.1:p.Val1536Ile | |
| NM_001130983.1:c.4576G>A | NP_001124455.1:p.Val1526Ile | |
| NM_001130984.1:c.4534G>A | NP_001124456.1:p.Val1512Ile | |
| NM_001130985.1:c.4564G>A | NP_001124457.1:p.Val1522Ile | |
| NM_001130986.1:c.4471G>A | NP_001124458.1:p.Val1491Ile | |
| NM_001130987.1:c.4627G>A | NP_001124459.1:p.Val1543Ile | |
| NM_003494.3:c.4510G>A | NP_003485.1:p.Val1504Ile | |
| XM_005264584.3:c.4669G>A | XP_005264641.1:p.Val1557Ile | |
| XM_005264585.3:c.4666G>A | XP_005264642.1:p.Val1556Ile | |
| XM_005264584.4:c.4669G>A | XP_005264641.1:p.Val1557Ile | |
| XM_005264585.5:c.4666G>A | XP_005264642.1:p.Val1556Ile | |
| XR_001738969.1:n.4827G>A | ||
| NM_001130987.2:c.4627G>A MANE Select | NP_001124459.1:p.Val1543Ile | |
| NM_001130455.2:c.4513G>A | NP_001123927.1:p.Val1505Ile | |
| NM_001130976.2:c.4468G>A | NP_001124448.1:p.Val1490Ile | |
| NM_001130977.2:c.4531G>A | NP_001124449.1:p.Val1511Ile | |
| NM_001130978.2:c.4573G>A | NP_001124450.1:p.Val1525Ile | |
| NM_001130979.2:c.4603G>A | NP_001124451.1:p.Val1535Ile | |
| NM_001130980.2:c.4561G>A | NP_001124452.1:p.Val1521Ile | |
| NM_001130981.2:c.4624G>A | NP_001124453.1:p.Val1542Ile | |
| NM_001130982.2:c.4606G>A | NP_001124454.1:p.Val1536Ile | |
| NM_001130983.2:c.4576G>A | NP_001124455.1:p.Val1526Ile | |
| NM_001130984.2:c.4534G>A | NP_001124456.1:p.Val1512Ile | |
| NM_001130985.2:c.4564G>A | NP_001124457.1:p.Val1522Ile | |
| NM_001130986.2:c.4471G>A | NP_001124458.1:p.Val1491Ile | |
| NM_003494.4:c.4510G>A MANE Plus Clinical | NP_003485.1:p.Val1504Ile |