Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106504155A>G , CM000674.2:g.106504155A>G | GRCh38 |
| NC_000012.11:g.106897933A>G , CM000674.1:g.106897933A>G | GRCh37 |
| NC_000012.10:g.105422063A>G | NCBI36 |
| NG_031837.1:g.151498A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018082.6:c.3173A>G MANE Select | NP_060552.4:p.Tyr1058Cys |
| ENST00000228347.9:c.3173A>G MANE Select | ENSP00000228347.4:p.Tyr1058Cys |
| NM_001160708.1:c.2999A>G | NP_001154180.1:p.Tyr1000Cys |
| NM_001160708.2:c.2999A>G | NP_001154180.1:p.Tyr1000Cys |
| NM_018082.5:c.3173A>G | NP_060552.4:p.Tyr1058Cys |
| NR_040246.1:n.325+3473T>C | |
| ENST00000228347.8:c.3173A>G | ENSP00000228347.4:p.Tyr1058Cys |
| ENST00000539066.5:c.2999A>G | ENSP00000445721.1:p.Tyr1000Cys |