Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219983328T>G , CM000663.2:g.219983328T>G | GRCh38 |
| NC_000001.10:g.220156670T>G , CM000663.1:g.220156670T>G | GRCh37 |
| NC_000001.9:g.218223293T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004446.3:c.3161A>C MANE Select | NP_004437.2:p.Tyr1054Ser |
| ENST00000366923.8:c.3161A>C MANE Select | ENSP00000355890.3:p.Tyr1054Ser |
| NM_004446.2:c.3161A>C | NP_004437.2:p.Tyr1054Ser |
| ENST00000366923.7:c.3161A>C | ENSP00000355890.3:p.Tyr1054Ser |
| ENST00000485821.1:n.124A>C | |
| XM_017000614.2:c.1583A>C | XP_016856103.1:p.Tyr528Ser |