Linked Data
ClinVar Variation Id:
2576420
ClinVar RCV Id:
RCV003322479
dbSNP Id:
rs1359814243
gnomAD v2:
12-52309937-G-A
gnomAD v3:
12-51916153-G-A
gnomAD v4:
12-51916153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916153G>A , CM000674.2:g.51916153G>A | GRCh38 |
| NC_000012.11:g.52309937G>A , CM000674.1:g.52309937G>A | GRCh37 |
| NC_000012.10:g.50596204G>A | NCBI36 |
| NG_009549.1:g.13736G>A , LRG_543:g.13736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.896G>A | ENSP00000446724.2:p.Cys299Tyr | |
| ENST00000551576.6:c.1166G>A | ENSP00000455848.2:p.Cys389Tyr | |
| ENST00000552678.2:c.1166G>A | ENSP00000457394.2:p.Cys389Tyr | |
| ENST00000388922.9:c.1166G>A MANE Select | ENSP00000373574.4:p.Cys389Tyr | |
| ENST00000388922.8:c.1166G>A | ENSP00000373574.4:p.Cys389Tyr | |
| ENST00000419526.6:c.644G>A | ENSP00000392492.2:p.Cys215Tyr | |
| ENST00000547632.1:n.441G>A | ||
| ENST00000550683.5:c.1208G>A | ENSP00000447884.1:p.Cys403Tyr | |
| ENST00000552678.1:c.171G>A | ||
| NM_000020.2:c.1166G>A , LRG_543t1:c.1166G>A | NP_000011.2:p.Cys389Tyr | |
| NM_001077401.1:c.1166G>A | NP_001070869.1:p.Cys389Tyr | |
| XM_005269235.2:c.1166G>A | XP_005269292.1:p.Cys389Tyr | |
| XM_011539008.1:c.896G>A | XP_011537310.1:p.Cys299Tyr | |
| XM_024449279.1:c.377G>A | XP_024305047.1:p.Cys126Tyr | |
| NM_000020.3:c.1166G>A MANE Select | NP_000011.2:p.Cys389Tyr | |
| NM_001077401.2:c.1166G>A | NP_001070869.1:p.Cys389Tyr |