Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280199A>C , CM000672.2:g.80280199A>C | GRCh38 |
| NC_000010.10:g.82039955A>C , CM000672.1:g.82039955A>C | GRCh37 |
| NC_000010.9:g.82029935A>C | NCBI36 |
| NG_008083.1:g.14480T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.523T>G MANE Select | ENSP00000361287.3:p.Trp175Gly | |
| ENST00000372213.7:c.523T>G | ENSP00000361287.3:p.Trp175Gly | |
| ENST00000455001.1:c.334T>G | ENSP00000414961.1:p.Trp112Gly | |
| NM_000429.2:c.523T>G | NP_000420.1:p.Trp175Gly | |
| XM_005269842.3:c.523T>G | XP_005269899.1:p.Trp175Gly | |
| XM_005269843.3:c.400T>G | XP_005269900.1:p.Trp134Gly | |
| NM_000429.3:c.523T>G MANE Select | NP_000420.1:p.Trp175Gly |