Linked Data
ClinVar Variation Id:
12035
dbSNP Id:
rs121964951
ExAC:
4:187178437 G / A
gnomAD v2:
4-187178437-G-A
gnomAD v3:
4-186257283-G-A
gnomAD v4:
4-186257283-G-A
PubMed:
PMID:14652634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186257283G>A , CM000666.2:g.186257283G>A | GRCh38 |
| NC_000004.11:g.187178437G>A , CM000666.1:g.187178437G>A | GRCh37 |
| NC_000004.10:g.187415431G>A | NCBI36 |
| NG_012095.2:g.53305G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264690.11:c.1643G>A MANE Select | ENSP00000264690.6:p.Cys548Tyr | |
| ENST00000264690.10:c.1643G>A | ENSP00000264690.6:p.Cys548Tyr | |
| ENST00000511406.5:n.1704G>A | ||
| ENST00000511608.5:c.1786G>A | ||
| ENST00000513864.2:c.1472-738G>A | ENSP00000424469.2:n.1472-738G>A | |
| NM_000892.3:c.1643G>A | NP_000883.2:p.Cys548Tyr | |
| XM_011531930.1:c.1676G>A | XP_011530232.1:p.Cys559Tyr | |
| XM_011531931.1:c.1676G>A | XP_011530233.1:p.Cys559Tyr | |
| XM_011531932.1:c.1562G>A | XP_011530234.1:p.Cys521Tyr | |
| XM_011531933.1:c.1562G>A | XP_011530235.1:p.Cys521Tyr | |
| XM_011531934.1:c.1037G>A | XP_011530236.1:p.Cys346Tyr | |
| NM_000892.4:c.1643G>A | NP_000883.2:p.Cys548Tyr | |
| NM_001318394.1:c.1472-738G>A | NP_001305323.1:n.1472-738G>A | |
| NM_001318396.1:c.1037G>A | NP_001305325.1:p.Cys346Tyr | |
| XM_011531930.2:c.1676G>A | XP_011530232.1:p.Cys559Tyr | |
| XM_017008181.1:c.1676G>A | XP_016863670.1:p.Cys559Tyr | |
| XM_017008182.1:c.1619-738G>A | XP_016863671.1:n.1619-738G>A | |
| XM_017008183.1:c.1586-738G>A | XP_016863672.1:n.1586-738G>A | |
| XM_017008184.1:c.1037G>A | XP_016863673.1:p.Cys346Tyr | |
| NM_000892.5:c.1643G>A MANE Select | NP_000883.2:p.Cys548Tyr | |
| NM_001318394.2:c.1472-738G>A | NP_001305323.1:n.1472-738G>A | |
| NM_001318396.2:c.1037G>A | NP_001305325.1:p.Cys346Tyr |