Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38822809C>A , CM000684.2:g.38822809C>A | GRCh38 |
| NC_000022.10:g.39218814C>A , CM000684.1:g.39218814C>A | GRCh37 |
| NC_000022.9:g.37548760C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014293.4:c.1303G>T MANE Select | NP_055108.2:p.Ala435Ser |
| ENST00000333039.4:c.1303G>T MANE Select | ENSP00000327545.3:p.Ala435Ser |
| NM_014293.3:c.1303G>T | NP_055108.2:p.Ala435Ser |
| ENST00000333039.2:c.1303G>T | ENSP00000327545.2:p.Ala435Ser |