Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.152835843C>G , CM000665.2:g.152835843C>G | GRCh38 |
| NC_000003.11:g.152553632C>G , CM000665.1:g.152553632C>G | GRCh37 |
| NC_000003.10:g.154036322C>G | NCBI36 |
| NG_032896.2:g.5897C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002563.5:c.61C>G MANE Select | NP_002554.1:p.Pro21Ala |
| ENST00000305097.6:c.61C>G MANE Select | ENSP00000304767.3:p.Pro21Ala |
| NM_002563.3:c.61C>G | NP_002554.1:p.Pro21Ala |
| NM_002563.4:c.61C>G | NP_002554.1:p.Pro21Ala |
| ENST00000305097.5:c.61C>G | ENSP00000304767.3:p.Pro21Ala |