Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53965814G>A , CM000681.2:g.53965814G>A | GRCh38 |
| NC_000019.9:g.54469068G>A , CM000681.1:g.54469068G>A | GRCh37 |
| NC_000019.8:g.59160880G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031895.6:c.283+2389G>A MANE Select | NP_114101.4:n.283+2389G>A |
| ENST00000270458.4:c.283+2389G>A MANE Select | ENSP00000270458.3:n.283+2389G>A |
| NM_031895.5:c.283+2389G>A | NP_114101.4:n.283+2389G>A |
| ENST00000270458.2:c.283+2389G>A | ENSP00000270458.2:n.283+2389G>A |