Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016155G>C , CM000681.2:g.49016155G>C | GRCh38 |
| NC_000019.9:g.49519412G>C , CM000681.1:g.49519412G>C | GRCh37 |
| NC_000019.8:g.54211224G>C | NCBI36 |
| NG_011464.1:g.5936C>G | |
| NG_033041.1:g.27257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.339C>G MANE Select | ENSP00000497294.2:p.Cys113Trp | |
| ENST00000649284.1:n.430C>G | ||
| ENST00000221421.6:c.339C>G | ENSP00000221421.1:p.Cys113Trp | |
| ENST00000391869.4:c.333C>G | ENSP00000375742.4:p.Cys111Trp | |
| NM_000894.2:c.339C>G | NP_000885.1:p.Cys113Trp | |
| XM_011526975.1:c.387C>G | XP_011525277.1:p.Cys129Trp | |
| NM_000894.3:c.339C>G MANE Select | NP_000885.1:p.Cys113Trp |