Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965883C= , CM000670.2:g.37965883C= | GRCh38 |
| NC_000008.10:g.37823401C= , CM000670.1:g.37823401C= | GRCh37 |
| NC_000008.9:g.37942558C= | NCBI36 |
| NG_011936.1:g.5784G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.587G= MANE Select | NP_000016.1:p.Cys196= |
| ENST00000345060.5:c.587G= MANE Select | ENSP00000343782.3:p.Cys196= |
| NM_000025.2:c.587G= | NP_000016.1:p.Cys196= |
| ENST00000345060.4:c.587G= | ENSP00000343782.3:p.Cys196= |
| ENST00000520341.2:n.715G= | |
| ENST00000614635.1:c.587G= | ENSP00000480325.1:p.Cys196= |
| ENST00000647937.1:c.71G= | ENSP00000497740.1:p.Cys24= |