Linked Data
ClinVar Variation Id:
197433
dbSNP Id:
rs766016391
ExAC:
2:71871118 G / A
gnomAD v2:
2-71871118-G-A
gnomAD v4:
2-71643988-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71643988G>A , CM000664.2:g.71643988G>A | GRCh38 |
| NC_000002.11:g.71871118G>A , CM000664.1:g.71871118G>A | GRCh37 |
| NC_000002.10:g.71724626G>A | NCBI36 |
| NG_008694.1:g.195366G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.1965G>A | ENSP00000513536.1:p.Trp655Ter | |
| ENST00000698058.1:c.1182G>A | ENSP00000513537.1:p.Trp394Ter | |
| ENST00000698059.1:c.1290G>A | ENSP00000513538.1:p.Trp430Ter | |
| ENST00000258104.8:c.4434G>A MANE Plus Clinical | ENSP00000258104.3:p.Trp1478Ter | |
| ENST00000410020.8:c.4551G>A MANE Select | ENSP00000386881.3:p.Trp1517Ter | |
| ENST00000258104.7:c.4434G>A | ENSP00000258104.3:p.Trp1478Ter | |
| ENST00000394120.6:c.4437G>A | ENSP00000377678.2:p.Trp1479Ter | |
| ENST00000409366.5:c.4500G>A | ENSP00000386512.1:p.Trp1500Ter | |
| ENST00000409582.7:c.4548G>A | ENSP00000386547.3:p.Trp1516Ter | |
| ENST00000409651.5:c.4530G>A | ENSP00000386683.1:p.Trp1510Ter | |
| ENST00000409744.5:c.4458G>A | ENSP00000386285.1:p.Trp1486Ter | |
| ENST00000409762.5:c.4485G>A | ENSP00000387137.1:p.Trp1495Ter | |
| ENST00000410020.7:c.4551G>A | ENSP00000386881.3:p.Trp1517Ter | |
| ENST00000410041.1:c.4488G>A | ENSP00000386617.1:p.Trp1496Ter | |
| ENST00000413539.6:c.4527G>A | ENSP00000407046.2:p.Trp1509Ter | |
| ENST00000429174.6:c.4497G>A | ENSP00000398305.2:p.Trp1499Ter | |
| ENST00000468173.1:n.733G>A | ||
| ENST00000479049.6:n.1319G>A | ||
| NM_001130455.1:c.4437G>A | NP_001123927.1:p.Trp1479Ter | |
| NM_001130976.1:c.4392G>A | NP_001124448.1:p.Trp1464Ter | |
| NM_001130977.1:c.4455G>A | NP_001124449.1:p.Trp1485Ter | |
| NM_001130978.1:c.4497G>A | NP_001124450.1:p.Trp1499Ter | |
| NM_001130979.1:c.4527G>A | NP_001124451.1:p.Trp1509Ter | |
| NM_001130980.1:c.4485G>A | NP_001124452.1:p.Trp1495Ter | |
| NM_001130981.1:c.4548G>A | NP_001124453.1:p.Trp1516Ter | |
| NM_001130982.1:c.4530G>A | NP_001124454.1:p.Trp1510Ter | |
| NM_001130983.1:c.4500G>A | NP_001124455.1:p.Trp1500Ter | |
| NM_001130984.1:c.4458G>A | NP_001124456.1:p.Trp1486Ter | |
| NM_001130985.1:c.4488G>A | NP_001124457.1:p.Trp1496Ter | |
| NM_001130986.1:c.4395G>A | NP_001124458.1:p.Trp1465Ter | |
| NM_001130987.1:c.4551G>A | NP_001124459.1:p.Trp1517Ter | |
| NM_003494.3:c.4434G>A | NP_003485.1:p.Trp1478Ter | |
| XM_005264584.3:c.4593G>A | XP_005264641.1:p.Trp1531Ter | |
| XM_005264585.3:c.4590G>A | XP_005264642.1:p.Trp1530Ter | |
| XM_005264584.4:c.4593G>A | XP_005264641.1:p.Trp1531Ter | |
| XM_005264585.5:c.4590G>A | XP_005264642.1:p.Trp1530Ter | |
| XR_001738969.1:n.4751G>A | ||
| NM_001130987.2:c.4551G>A MANE Select | NP_001124459.1:p.Trp1517Ter | |
| NM_001130455.2:c.4437G>A | NP_001123927.1:p.Trp1479Ter | |
| NM_001130976.2:c.4392G>A | NP_001124448.1:p.Trp1464Ter | |
| NM_001130977.2:c.4455G>A | NP_001124449.1:p.Trp1485Ter | |
| NM_001130978.2:c.4497G>A | NP_001124450.1:p.Trp1499Ter | |
| NM_001130979.2:c.4527G>A | NP_001124451.1:p.Trp1509Ter | |
| NM_001130980.2:c.4485G>A | NP_001124452.1:p.Trp1495Ter | |
| NM_001130981.2:c.4548G>A | NP_001124453.1:p.Trp1516Ter | |
| NM_001130982.2:c.4530G>A | NP_001124454.1:p.Trp1510Ter | |
| NM_001130983.2:c.4500G>A | NP_001124455.1:p.Trp1500Ter | |
| NM_001130984.2:c.4458G>A | NP_001124456.1:p.Trp1486Ter | |
| NM_001130985.2:c.4488G>A | NP_001124457.1:p.Trp1496Ter | |
| NM_001130986.2:c.4395G>A | NP_001124458.1:p.Trp1465Ter | |
| NM_003494.4:c.4434G>A MANE Plus Clinical | NP_003485.1:p.Trp1478Ter |