Linked Data
ClinVar Variation Id:
14298
dbSNP Id:
rs121913574
gnomAD v2:
6-129511462-G-A
gnomAD v3:
6-129190317-G-A
gnomAD v4:
6-129190317-G-A
PubMed:
PMID:12552556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129190317G>A , CM000668.2:g.129190317G>A | GRCh38 |
| NC_000006.11:g.129511462G>A , CM000668.1:g.129511462G>A | GRCh37 |
| NC_000006.10:g.129553155G>A | NCBI36 |
| NG_008678.1:g.312177G>A , LRG_409:g.312177G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.1580G>A | ENSP00000481744.2:p.Cys527Tyr | |
| ENST00000618192.5:c.1580G>A | ENSP00000480802.2:p.Cys527Tyr | |
| ENST00000686599.1:n.1685G>A | ||
| ENST00000690881.1:n.1043G>A | ||
| ENST00000421865.3:c.1580G>A MANE Select | ENSP00000400365.2:p.Cys527Tyr | |
| ENST00000421865.2:c.1580G>A | ENSP00000400365.2:p.Cys527Tyr | |
| ENST00000617695.4:c.1580G>A | ENSP00000481744.1:p.Cys527Tyr | |
| ENST00000618192.4:c.1580G>A | ENSP00000480802.1:p.Cys527Tyr | |
| NM_000426.3:c.1580G>A , LRG_409t1:c.1580G>A | NP_000417.2:p.Cys527Tyr | |
| NM_001079823.1:c.1580G>A | NP_001073291.1:p.Cys527Tyr | |
| XM_005266981.2:c.1580G>A | XP_005267038.1:p.Cys527Tyr | |
| XM_005266982.2:c.1580G>A | XP_005267039.1:p.Cys527Tyr | |
| XM_011535820.1:c.1580G>A | XP_011534122.1:p.Cys527Tyr | |
| XM_005266981.3:c.1580G>A | XP_005267038.1:p.Cys527Tyr | |
| XM_005266982.3:c.1580G>A | XP_005267039.1:p.Cys527Tyr | |
| XM_011535820.2:c.1580G>A | XP_011534122.1:p.Cys527Tyr | |
| XM_017010851.2:c.1586G>A | XP_016866340.1:p.Cys529Tyr | |
| XM_017010853.1:c.1580G>A | XP_016866342.1:p.Cys527Tyr | |
| NM_000426.4:c.1580G>A MANE Select | NP_000417.3:p.Cys527Tyr | |
| NM_001079823.2:c.1580G>A | NP_001073291.2:p.Cys527Tyr |