Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15197551C>A , CM000681.2:g.15197551C>A | GRCh38 |
| NC_000019.9:g.15308362C>A , CM000681.1:g.15308362C>A | GRCh37 |
| NC_000019.8:g.15169362C>A | NCBI36 |
| NG_009819.1:g.8431G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.146G>T MANE Select | ENSP00000263388.1:p.Cys49Phe | |
| ENST00000263388.6:c.146G>T | ENSP00000263388.1:p.Cys49Phe | |
| ENST00000601011.1:c.143G>T | ENSP00000473138.1:p.Cys48Phe | |
| NM_000435.2:c.146G>T | NP_000426.2:p.Cys49Phe | |
| XM_005259924.3:c.146G>T | XP_005259981.1:p.Cys49Phe | |
| XM_005259924.4:c.146G>T | XP_005259981.1:p.Cys49Phe | |
| NM_000435.3:c.146G>T MANE Select | NP_000426.2:p.Cys49Phe |