Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154752518G>A , CM000666.2:g.154752518G>A | GRCh38 |
| NC_000004.11:g.155673670G>A , CM000666.1:g.155673670G>A | GRCh37 |
| NC_000004.10:g.155893120G>A | NCBI36 |
| NG_009110.1:g.13508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.*3382G>A MANE Select | ENSP00000337224.3:n.*3382G>A | |
| ENST00000336356.3:c.*3382G>A | ENSP00000337224.3:n.*3382G>A | |
| ENST00000510733.1:n.4402G>A | ||
| NM_001301645.1:c.*3382G>A | NP_001288574.1:n.*3382G>A | |
| NM_004744.4:c.*3382G>A | NP_004735.2:n.*3382G>A | |
| NM_004744.5:c.*3382G>A MANE Select | NP_004735.2:n.*3382G>A | |
| NM_001301645.2:c.*3382G>A | NP_001288574.1:n.*3382G>A |