Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016155G>T , CM000681.2:g.49016155G>T | GRCh38 |
| NC_000019.9:g.49519412G>T , CM000681.1:g.49519412G>T | GRCh37 |
| NC_000019.8:g.54211224G>T | NCBI36 |
| NG_011464.1:g.5936C>A | |
| NG_033041.1:g.27257G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.339C>A MANE Select | ENSP00000497294.2:p.Cys113Ter | |
| ENST00000649284.1:n.430C>A | ||
| ENST00000221421.6:c.339C>A | ENSP00000221421.1:p.Cys113Ter | |
| ENST00000391869.4:c.333C>A | ENSP00000375742.4:p.Cys111Ter | |
| NM_000894.2:c.339C>A | NP_000885.1:p.Cys113Ter | |
| XM_011526975.1:c.387C>A | XP_011525277.1:p.Cys129Ter | |
| NM_000894.3:c.339C>A MANE Select | NP_000885.1:p.Cys113Ter |