Linked Data
ClinVar Variation Id:
9432
ClinVar RCV Id:
RCV000010039
dbSNP Id:
rs28937315
PubMed:
PMID:12114483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3757894T>C , CM000678.2:g.3757894T>C | GRCh38 |
| NC_000016.9:g.3807895T>C , CM000678.1:g.3807895T>C | GRCh37 |
| NC_000016.8:g.3747896T>C | NCBI36 |
| NG_009873.1:g.127227A>G | |
| NG_009873.2:g.127820A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.3524A>G MANE Select | ENSP00000262367.5:p.Tyr1175Cys | |
| ENST00000262367.9:c.3524A>G | ENSP00000262367.5:p.Tyr1175Cys | |
| ENST00000382070.7:c.3410A>G | ENSP00000371502.3:p.Tyr1137Cys | |
| ENST00000570939.2:c.2129A>G | ENSP00000461002.2:p.Tyr710Cys | |
| NM_001079846.1:c.3410A>G | NP_001073315.1:p.Tyr1137Cys | |
| NM_004380.2:c.3524A>G | NP_004371.2:p.Tyr1175Cys | |
| XM_005255124.3:c.3479A>G | XP_005255181.1:p.Tyr1160Cys | |
| XM_005255125.3:c.3107A>G | XP_005255182.1:p.Tyr1036Cys | |
| XM_006720848.2:c.3524A>G | XP_006720911.1:p.Tyr1175Cys | |
| XM_011522380.1:c.3470A>G | XP_011520682.1:p.Tyr1157Cys | |
| XM_011522381.1:c.2771A>G | XP_011520683.1:p.Tyr924Cys | |
| XM_011522382.1:c.3524A>G | XP_011520684.1:p.Tyr1175Cys | |
| XM_005255124.4:c.3479A>G | XP_005255181.1:p.Tyr1160Cys | |
| XM_005255125.4:c.3107A>G | XP_005255182.1:p.Tyr1036Cys | |
| XM_006720848.3:c.3524A>G | XP_006720911.1:p.Tyr1175Cys | |
| XM_011522381.2:c.2771A>G | XP_011520683.1:p.Tyr924Cys | |
| XM_011522382.3:c.3524A>G | XP_011520684.1:p.Tyr1175Cys | |
| XM_017022944.1:c.3518A>G | XP_016878433.1:p.Tyr1173Cys | |
| NM_004380.3:c.3524A>G MANE Select | NP_004371.2:p.Tyr1175Cys |