Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755649G>A , CM000679.2:g.43755649G>A | GRCh38 |
| NC_000017.10:g.41833017G>A , CM000679.1:g.41833017G>A | GRCh37 |
| NC_000017.9:g.39188543G>A | NCBI36 |
| NG_008078.2:g.8140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.335C>T MANE Select | ENSP00000301691.1:p.Ala112Val | |
| ENST00000301691.2:c.335C>T | ENSP00000301691.1:p.Ala112Val | |
| NM_025237.2:c.335C>T | NP_079513.1:p.Ala112Val | |
| NM_025237.3:c.335C>T MANE Select | NP_079513.1:p.Ala112Val |