Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100707156A>C , CM000669.2:g.100707156A>C | GRCh38 |
| NC_000007.13:g.100304779A>C , CM000669.1:g.100304779A>C | GRCh37 |
| NC_000007.12:g.100142715A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303151.5:c.326A>C MANE Select | ENSP00000304353.4:p.Asp109Ala | |
| ENST00000303151.4:c.326A>C | ENSP00000304353.4:p.Asp109Ala | |
| ENST00000457480.1:c.326A>C | ENSP00000387814.1:p.Asp109Ala | |
| NM_005837.2:c.326A>C | NP_005828.2:p.Asp109Ala | |
| NM_005837.3:c.326A>C MANE Select | NP_005828.2:p.Asp109Ala |