Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887130G>A , CM000681.2:g.12887130G>A | GRCh38 |
| NC_000019.9:g.12997944G>A , CM000681.1:g.12997944G>A | GRCh37 |
| NC_000019.8:g.12858944G>A | NCBI36 |
| NG_009292.1:g.971G>A | |
| NG_013087.1:g.5074C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.11C>T MANE Select | ENSP00000264834.3:p.Ala4Val | |
| ENST00000264834.4:c.11C>T | ENSP00000264834.3:p.Ala4Val | |
| NM_006563.3:c.11C>T | NP_006554.1:p.Ala4Val | |
| NM_006563.4:c.11C>T | NP_006554.1:p.Ala4Val | |
| NM_006563.5:c.11C>T MANE Select | NP_006554.1:p.Ala4Val |