Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965884A>T , CM000670.2:g.37965884A>T | GRCh38 |
| NC_000008.10:g.37823402A>T , CM000670.1:g.37823402A>T | GRCh37 |
| NC_000008.9:g.37942559A>T | NCBI36 |
| NG_011936.1:g.5783T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.586T>A MANE Select | NP_000016.1:p.Cys196Ser |
| ENST00000345060.5:c.586T>A MANE Select | ENSP00000343782.3:p.Cys196Ser |
| NM_000025.2:c.586T>A | NP_000016.1:p.Cys196Ser |
| ENST00000345060.4:c.586T>A | ENSP00000343782.3:p.Cys196Ser |
| ENST00000520341.2:n.714T>A | |
| ENST00000614635.1:c.586T>A | ENSP00000480325.1:p.Cys196Ser |
| ENST00000647937.1:c.70T>A | ENSP00000497740.1:p.Cys24Ser |