Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73998559G>A , CM000666.2:g.73998559G>A | GRCh38 |
| NC_000004.11:g.74864276G>A , CM000666.1:g.74864276G>A | GRCh37 |
| NC_000004.10:g.75083140G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002994.5:c.23C>T MANE Select | NP_002985.1:p.Ala8Val |
| ENST00000296027.5:c.23C>T MANE Select | ENSP00000296027.4:p.Ala8Val |
| NM_002994.4:c.23C>T | NP_002985.1:p.Ala8Val |
| ENST00000296027.4:c.23C>T | ENSP00000296027.4:p.Ala8Val |