Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.79784194A>T , CM000679.2:g.79784194A>T | GRCh38 |
| NC_000017.10:g.77757993A>T , CM000679.1:g.77757993A>T | GRCh37 |
| NC_000017.9:g.75372588A>T | NCBI36 |
| NG_016986.1:g.11017A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005189.3:c.751A>T MANE Select | NP_005180.1:p.Ser251Cys |
| ENST00000310942.9:c.751A>T MANE Select | ENSP00000308750.4:p.Ser251Cys |
| NM_005189.2:c.751A>T | NP_005180.1:p.Ser251Cys |
| ENST00000310942.8:c.751A>T | ENSP00000308750.4:p.Ser251Cys |
| XM_011525382.1:c.751A>T | XP_011523684.1:p.Ser251Cys |
| XM_011525383.1:c.496A>T | XP_011523685.1:p.Ser166Cys |
| XM_011525383.2:c.496A>T | XP_011523685.1:p.Ser166Cys |