Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47379032T>G , CM000664.2:g.47379032T>G | GRCh38 |
| NC_000002.11:g.47606171T>G , CM000664.1:g.47606171T>G | GRCh37 |
| NC_000002.10:g.47459675T>G | NCBI36 |
| NG_012352.2:g.38870T>G , LRG_215:g.38870T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.635T>G MANE Select | ENSP00000263735.4:p.Val212Gly | |
| ENST00000263735.8:c.635T>G | ENSP00000263735.4:p.Val212Gly | |
| ENST00000405271.5:c.719T>G | ENSP00000385476.1:p.Val240Gly | |
| ENST00000456133.5:c.719T>G | ENSP00000410675.1:p.Val240Gly | |
| ENST00000490733.1:n.484T>G | ||
| NM_002354.2:c.635T>G , LRG_215t1:c.635T>G | NP_002345.2:p.Val212Gly | |
| NM_002354.3:c.635T>G MANE Select | NP_002345.2:p.Val212Gly |