Linked Data
ClinVar Variation Id:
1975443
ClinVar RCV Id:
RCV002755679
dbSNP Id:
rs1462528617
gnomAD v2:
2-55908046-C-T
gnomAD v4:
2-55680911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680911C>T , CM000664.2:g.55680911C>T | GRCh38 |
| NC_000002.11:g.55908046C>T , CM000664.1:g.55908046C>T | GRCh37 |
| NC_000002.10:g.55761550C>T | NCBI36 |
| NG_033012.1:g.18000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.461G>A MANE Select | ENSP00000400646.2:p.Cys154Tyr | |
| ENST00000260604.8:c.461G>A | ENSP00000260604.4:p.Cys154Tyr | |
| ENST00000415374.5:c.461G>A | ENSP00000393953.1:p.Cys154Tyr | |
| ENST00000429805.1:c.*109G>A | ENSP00000411994.1:n.*109G>A | |
| ENST00000447944.6:c.461G>A | ENSP00000400646.2:p.Cys154Tyr | |
| NM_033109.4:c.461G>A | NP_149100.2:p.Cys154Tyr | |
| XM_005264629.1:c.221G>A | XP_005264686.1:p.Cys74Tyr | |
| XM_011533142.1:c.461G>A | XP_011531444.1:p.Cys154Tyr | |
| XM_005264629.2:c.221G>A | XP_005264686.1:p.Cys74Tyr | |
| XM_017005172.1:c.221G>A | XP_016860661.1:p.Cys74Tyr | |
| XR_001739010.1:n.491G>A | ||
| NM_033109.5:c.461G>A MANE Select | NP_149100.2:p.Cys154Tyr |