Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180113C>T , CM000681.2:g.15180113C>T | GRCh38 |
| NC_000019.9:g.15290924C>T , CM000681.1:g.15290924C>T | GRCh37 |
| NC_000019.8:g.15151924C>T | NCBI36 |
| NG_009819.1:g.25869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3286G>A MANE Select | ENSP00000263388.1:p.Gly1096Arg | |
| ENST00000263388.6:c.3286G>A | ENSP00000263388.1:p.Gly1096Arg | |
| ENST00000601011.1:c.3127G>A | ENSP00000473138.1:p.Gly1043Arg | |
| NM_000435.2:c.3286G>A | NP_000426.2:p.Gly1096Arg | |
| XM_005259924.3:c.3130G>A | XP_005259981.1:p.Gly1044Arg | |
| XM_005259924.4:c.3130G>A | XP_005259981.1:p.Gly1044Arg | |
| NM_000435.3:c.3286G>A MANE Select | NP_000426.2:p.Gly1096Arg |