Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44309603A>T , CM000673.2:g.44309603A>T | GRCh38 |
| NC_000011.9:g.44331153A>T , CM000673.1:g.44331153A>T | GRCh37 |
| NC_000011.8:g.44287729A>T | NCBI36 |
| NG_015809.1:g.5564T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.460T>A MANE Select | ENSP00000498217.1:p.Cys154Ser | |
| ENST00000329255.3:c.460T>A | ENSP00000332744.3:p.Cys154Ser | |
| NM_021926.3:c.460T>A | NP_068745.2:p.Cys154Ser | |
| XM_011520264.1:c.460T>A | XP_011518566.1:p.Cys154Ser | |
| XM_011520265.1:c.-63T>A | XP_011518567.1:n.-63T>A | |
| NM_021926.4:c.460T>A MANE Select | NP_068745.2:p.Cys154Ser |