Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33053904T>G , CM000675.2:g.33053904T>G | GRCh38 |
| NC_000013.10:g.33628041T>G , CM000675.1:g.33628041T>G | GRCh37 |
| NC_000013.9:g.32526041T>G | NCBI36 |
| NG_011485.1:g.42471T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.957T>G MANE Select | ENSP00000369442.3:p.Ser319= | |
| ENST00000380099.3:c.957T>G | ENSP00000369442.3:p.Ser319= | |
| ENST00000487852.1:n.965T>G | ||
| NM_004795.3:c.957T>G | NP_004786.2:p.Ser319= | |
| XM_006719895.1:c.36T>G | XP_006719958.1:p.Ser12= | |
| XM_006719895.2:c.36T>G | XP_006719958.1:p.Ser12= | |
| NM_004795.4:c.957T>G MANE Select | NP_004786.2:p.Ser319= |