Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18791259T>G , CM000681.2:g.18791259T>G | GRCh38 |
| NC_000019.9:g.18902068T>G , CM000681.1:g.18902068T>G | GRCh37 |
| NC_000019.8:g.18763068T>G | NCBI36 |
| NG_007070.1:g.5047A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.11A>C MANE Select | NP_000086.2:p.Asp4Ala |
| ENST00000222271.7:c.11A>C MANE Select | ENSP00000222271.2:p.Asp4Ala |
| NM_000095.2:c.11A>C | NP_000086.2:p.Asp4Ala |
| ENST00000222271.6:c.11A>C | ENSP00000222271.2:p.Asp4Ala |
| ENST00000425807.1:c.11A>C | ENSP00000403792.1:p.Asp4Ala |
| ENST00000542601.6:c.-344A>C | ENSP00000439156.2:n.-344A>C |