User contributed link-outs
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120442599C>T , CM000685.2:g.120442599C>T | GRCh38 |
| NC_000023.10:g.119576454C>T , CM000685.1:g.119576454C>T | GRCh37 |
| NC_000023.9:g.119460482C>T | NCBI36 |
| NG_007995.1:g.31751G>A , LRG_749:g.31751G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001122606.1:c.928G>A , LRG_749t3:c.928G>A | NP_001116078.1:p.Val310Ile | |
| NM_002294.2:c.928G>A , LRG_749t1:c.928G>A | NP_002285.1:p.Val310Ile | |
| NM_013995.2:c.928G>A , LRG_749t2:c.928G>A | NP_054701.1:p.Val310Ile | |
| NM_002294.3:c.928G>A VV MANE Preferred | NP_002285.1:p.Val310Ile | |
| ENST00000200639.8:c.928G>A | ENSP00000200639.4:p.Val310Ile | |
| ENST00000371335.4:c.928G>A | ENSP00000360386.4:p.Val310Ile | |
| ENST00000434600.6:c.928G>A | ENSP00000408411.2:p.Val310Ile | |
| ENST00000486593.5:n.471G>A |