Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740556A>C , CM000666.2:g.67740556A>C | GRCh38 |
| NC_000004.11:g.68606274A>C , CM000666.1:g.68606274A>C | GRCh37 |
| NC_000004.10:g.68288869A>C | NCBI36 |
| NG_009293.1:g.20531T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.911T>G MANE Select | ENSP00000226413.5:p.Val304Gly | |
| ENST00000226413.4:c.911T>G | ENSP00000226413.4:p.Val304Gly | |
| ENST00000420975.2:c.783T>G | ENSP00000397561.2:n.783T>G | |
| NM_000406.2:c.911T>G | NP_000397.1:p.Val304Gly | |
| NM_001012763.1:c.*33T>G | NP_001012781.1:n.*33T>G | |
| NM_000406.3:c.911T>G MANE Select | NP_000397.1:p.Val304Gly | |
| NM_001012763.2:c.*33T>G | NP_001012781.1:n.*33T>G |