Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887135G>C , CM000681.2:g.12887135G>C | GRCh38 |
| NC_000019.9:g.12997949G>C , CM000681.1:g.12997949G>C | GRCh37 |
| NC_000019.8:g.12858949G>C | NCBI36 |
| NG_009292.1:g.976G>C | |
| NG_013087.1:g.5069C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.6C>G MANE Select | ENSP00000264834.3:p.Ala2= | |
| ENST00000264834.4:c.6C>G | ENSP00000264834.3:p.Ala2= | |
| NM_006563.3:c.6C>G | NP_006554.1:p.Ala2= | |
| NM_006563.4:c.6C>G | NP_006554.1:p.Ala2= | |
| NM_006563.5:c.6C>G MANE Select | NP_006554.1:p.Ala2= |