Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180184C>T , CM000681.2:g.15180184C>T | GRCh38 |
| NC_000019.9:g.15290995C>T , CM000681.1:g.15290995C>T | GRCh37 |
| NC_000019.8:g.15151995C>T | NCBI36 |
| NG_009819.1:g.25798G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3215G>A MANE Select | ENSP00000263388.1:p.Cys1072Tyr | |
| ENST00000263388.6:c.3215G>A | ENSP00000263388.1:p.Cys1072Tyr | |
| ENST00000601011.1:c.3056G>A | ENSP00000473138.1:p.Cys1019Tyr | |
| NM_000435.2:c.3215G>A | NP_000426.2:p.Cys1072Tyr | |
| XM_005259924.3:c.3059G>A | XP_005259981.1:p.Cys1020Tyr | |
| XM_005259924.4:c.3059G>A | XP_005259981.1:p.Cys1020Tyr | |
| NM_000435.3:c.3215G>A MANE Select | NP_000426.2:p.Cys1072Tyr |