Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57465990T>G , CM000678.2:g.57465990T>G | GRCh38 |
| NC_000016.9:g.57499902T>G , CM000678.1:g.57499902T>G | GRCh37 |
| NC_000016.8:g.56057403T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219252.10:c.174T>G MANE Select | ENSP00000219252.4:p.Val58= | |
| ENST00000219252.9:c.174T>G | ENSP00000219252.4:p.Val58= | |
| ENST00000562599.5:c.*433T>G | ENSP00000456367.1:n.*433T>G | |
| ENST00000562953.5:n.232T>G | ||
| ENST00000563115.5:n.239T>G | ||
| ENST00000563589.1:n.268T>G | ||
| ENST00000564651.5:n.225T>G | ||
| ENST00000567982.5:n.223T>G | ||
| NM_032940.2:c.174T>G | NP_116558.1:p.Val58= | |
| XM_011523111.1:c.174T>G | XP_011521413.1:p.Val58= | |
| NM_032940.3:c.174T>G MANE Select | NP_116558.1:p.Val58= |