Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85490568T>G , CM000668.2:g.85490568T>G | GRCh38 |
| NC_000006.11:g.86200286T>G , CM000668.1:g.86200286T>G | GRCh37 |
| NC_000006.10:g.86257005T>G | NCBI36 |
| NG_028214.1:g.45985T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257770.8:c.1271T>G MANE Select | ENSP00000257770.3:p.Val424Gly | |
| ENST00000257770.7:c.1271T>G | ENSP00000257770.3:p.Val424Gly | |
| ENST00000369651.7:c.1210+969T>G | ENSP00000358665.3:n.1210+969T>G | |
| ENST00000416334.5:c.504+969T>G | ||
| ENST00000437581.1:c.358T>G | ||
| NM_001204813.1:c.1210+969T>G | NP_001191742.1:n.1210+969T>G | |
| NM_002526.3:c.1271T>G | NP_002517.1:p.Val424Gly | |
| NM_002526.4:c.1271T>G MANE Select | NP_002517.1:p.Val424Gly | |
| NM_001204813.2:c.1210+969T>G | NP_001191742.1:n.1210+969T>G |