Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888564G>A , CM000664.2:g.72888564G>A | GRCh38 |
| NC_000002.11:g.73115693G>A , CM000664.1:g.73115693G>A | GRCh37 |
| NC_000002.10:g.72969201G>A | NCBI36 |
| NG_008234.1:g.6182G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003124.5:c.555G>A MANE Select | NP_003115.1:p.Ala185= |
| ENST00000234454.6:c.555G>A MANE Select | ENSP00000234454.5:p.Ala185= |
| NM_003124.4:c.555G>A | NP_003115.1:p.Ala185= |
| ENST00000234454.5:c.555G>A | ENSP00000234454.5:p.Ala185= |
| ENST00000498749.1:n.500G>A |