Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875983C>A , CM000664.2:g.240875983C>A | GRCh38 |
| NC_000002.11:g.241815400C>A , CM000664.1:g.241815400C>A | GRCh37 |
| NC_000002.10:g.241464073C>A | NCBI36 |
| NG_008005.1:g.12239C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.825C>A MANE Select | NP_000021.1:p.Ser275Arg |
| ENST00000307503.4:c.825C>A MANE Select | ENSP00000302620.3:p.Ser275Arg |
| NM_000030.2:c.825C>A | NP_000021.1:p.Ser275Arg |
| ENST00000307503.3:c.825C>A | ENSP00000302620.3:p.Ser275Arg |
| ENST00000476698.1:n.477C>A |