Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016183A>C , CM000681.2:g.49016183A>C | GRCh38 |
| NC_000019.9:g.49519440A>C , CM000681.1:g.49519440A>C | GRCh37 |
| NC_000019.8:g.54211252A>C | NCBI36 |
| NG_011464.1:g.5908T>G | |
| NG_033041.1:g.27285A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.311T>G MANE Select | ENSP00000497294.2:p.Val104Gly | |
| ENST00000649284.1:n.402T>G | ||
| ENST00000221421.6:c.311T>G | ENSP00000221421.1:p.Val104Gly | |
| ENST00000391869.4:c.305T>G | ENSP00000375742.4:p.Val102Gly | |
| NM_000894.2:c.311T>G | NP_000885.1:p.Val104Gly | |
| XM_011526975.1:c.359T>G | XP_011525277.1:p.Val120Gly | |
| NM_000894.3:c.311T>G MANE Select | NP_000885.1:p.Val104Gly |