Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84441419A>C , CM000664.2:g.84441419A>C | GRCh38 |
| NC_000002.11:g.84668543A>C , CM000664.1:g.84668543A>C | GRCh37 |
| NC_000002.10:g.84522054A>C | NCBI36 |
| NG_016755.1:g.23044T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.359T>G MANE Select | NP_003840.2:p.Val120Gly |
| ENST00000393868.7:c.359T>G MANE Select | ENSP00000377446.2:p.Val120Gly |
| NM_003849.3:c.359T>G | NP_003840.2:p.Val120Gly |
| ENST00000393868.6:c.359T>G | ENSP00000377446.2:p.Val120Gly |
| ENST00000430989.1:n.399T>G | |
| ENST00000442240.5:c.370T>G | |
| ENST00000483605.5:n.438T>G | |
| ENST00000491642.5:n.531T>G | |
| ENST00000651342.1:c.359T>G | ENSP00000498471.1:p.Val120Gly |