Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875982G>A , CM000664.2:g.240875982G>A | GRCh38 |
| NC_000002.11:g.241815399G>A , CM000664.1:g.241815399G>A | GRCh37 |
| NC_000002.10:g.241464072G>A | NCBI36 |
| NG_008005.1:g.12238G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.824G>A MANE Select | NP_000021.1:p.Ser275Asn |
| ENST00000307503.4:c.824G>A MANE Select | ENSP00000302620.3:p.Ser275Asn |
| NM_000030.2:c.824G>A | NP_000021.1:p.Ser275Asn |
| ENST00000307503.3:c.824G>A | ENSP00000302620.3:p.Ser275Asn |
| ENST00000476698.1:n.476G>A |