Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663242T>G , CM000676.2:g.36663242T>G | GRCh38 |
| NC_000014.8:g.37132447T>G , CM000676.1:g.37132447T>G | GRCh37 |
| NC_000014.7:g.36202198T>G | NCBI36 |
| NG_013357.1:g.10675T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.350T>G MANE Select | ENSP00000355245.6:p.Val117Gly | |
| ENST00000361487.6:c.350T>G | ENSP00000355245.6:p.Val117Gly | |
| ENST00000402703.6:c.350T>G | ENSP00000384817.2:p.Val117Gly | |
| ENST00000554201.1:c.-212T>G | ENSP00000450434.1:n.-212T>G | |
| NM_006194.3:c.350T>G | NP_006185.1:p.Val117Gly | |
| NM_001372076.1:c.350T>G MANE Select | NP_001359005.1:p.Val117Gly | |
| NM_006194.4:c.350T>G | NP_006185.1:p.Val117Gly |