Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016155G>A , CM000681.2:g.49016155G>A | GRCh38 |
| NC_000019.9:g.49519412G>A , CM000681.1:g.49519412G>A | GRCh37 |
| NC_000019.8:g.54211224G>A | NCBI36 |
| NG_011464.1:g.5936C>T | |
| NG_033041.1:g.27257G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.339C>T MANE Select | NP_000885.1:p.Cys113= |
| ENST00000649238.3:c.339C>T MANE Select | ENSP00000497294.2:p.Cys113= |
| NM_000894.2:c.339C>T | NP_000885.1:p.Cys113= |
| ENST00000221421.6:c.339C>T | ENSP00000221421.1:p.Cys113= |
| ENST00000391869.4:c.333C>T | ENSP00000375742.4:p.Cys111= |
| ENST00000649284.1:n.430C>T | |
| XM_011526975.1:c.387C>T | XP_011525277.1:p.Cys129= |