Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239950T>G , CM000674.2:g.65239950T>G | GRCh38 |
| NC_000012.11:g.65633730T>G , CM000674.1:g.65633730T>G | GRCh37 |
| NC_000012.10:g.63919997T>G | NCBI36 |
| NG_016210.1:g.75380T>G | |
| NG_016210.2:g.75380T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1943T>G MANE Select | ENSP00000308369.2:p.Val648Gly | |
| ENST00000308330.2:c.1943T>G | ENSP00000308369.2:p.Val648Gly | |
| NM_001167614.1:c.1940T>G | NP_001161086.1:p.Val647Gly | |
| NM_014319.4:c.1943T>G | NP_055134.2:p.Val648Gly | |
| NM_014319.5:c.1943T>G MANE Select | NP_055134.2:p.Val648Gly | |
| NM_001167614.2:c.1940T>G | NP_001161086.1:p.Val647Gly |