Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289752A>T , CM000683.2:g.44289752A>T | GRCh38 |
| NC_000021.8:g.45709635A>T , CM000683.1:g.45709635A>T | GRCh37 |
| NC_000021.7:g.44534063A>T | NCBI36 |
| NG_009556.1:g.8873A>T , LRG_18:g.8873A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.748A>T MANE Select | NP_000374.1:p.Ser250Cys |
| ENST00000291582.6:c.748A>T MANE Select | ENSP00000291582.5:p.Ser250Cys |
| NM_000383.3:c.748A>T | NP_000374.1:p.Ser250Cys |
| ENST00000291582.5:c.748A>T | ENSP00000291582.5:p.Ser250Cys |
| ENST00000527919.5:n.1481A>T | |
| ENST00000530812.5:n.2498A>T | |
| XM_011529551.1:c.748A>T | XP_011527853.1:p.Ser250Cys |