Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15189085A>T , CM000681.2:g.15189085A>T | GRCh38 |
| NC_000019.9:g.15299896A>T , CM000681.1:g.15299896A>T | GRCh37 |
| NC_000019.8:g.15160896A>T | NCBI36 |
| NG_009819.1:g.16897T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263388.7:c.1282T>A MANE Select | ENSP00000263388.1:p.Cys428Ser | |
| ENST00000263388.6:c.1282T>A | ENSP00000263388.1:p.Cys428Ser | |
| ENST00000601011.1:c.1279T>A | ENSP00000473138.1:p.Cys427Ser | |
| NM_000435.2:c.1282T>A | NP_000426.2:p.Cys428Ser | |
| XM_005259924.3:c.1282T>A | XP_005259981.1:p.Cys428Ser | |
| XM_005259924.4:c.1282T>A | XP_005259981.1:p.Cys428Ser | |
| NM_000435.3:c.1282T>A MANE Select | NP_000426.2:p.Cys428Ser |