Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73385978T>G , CM000664.2:g.73385978T>G | GRCh38 |
| NC_000002.11:g.73613106T>G , CM000664.1:g.73613106T>G | GRCh37 |
| NC_000002.10:g.73466614T>G | NCBI36 |
| NG_011690.1:g.5224T>G , LRG_741:g.5224T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.110T>G MANE Select | NP_001365383.1:p.Val37Gly |
| ENST00000613296.6:c.110T>G MANE Select | ENSP00000482968.1:p.Val37Gly |
| NM_015120.4:c.113T>G , LRG_741t1:c.113T>G | NP_055935.4:p.Val38Gly |
| ENST00000484298.5:c.110T>G | ENSP00000478155.1:p.Val37Gly |
| ENST00000613296.4:c.110T>G | ENSP00000482968.1:p.Val37Gly |
| ENST00000614410.4:c.110T>G | ENSP00000479094.1:p.Val37Gly |
| ENST00000682675.1:n.70T>G | |
| ENST00000682889.1:n.75T>G |