Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475114T>G , CM000684.2:g.32475114T>G | GRCh38 |
| NC_000022.10:g.32871101T>G , CM000684.1:g.32871101T>G | GRCh37 |
| NC_000022.9:g.31201101T>G | NCBI36 |
| NG_016001.1:g.5395T>G | |
| NG_016001.2:g.5395T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.112T>G MANE Select | ENSP00000266087.7:p.Trp38Gly | |
| ENST00000266087.11:c.112T>G | ENSP00000266087.7:p.Trp38Gly | |
| ENST00000420700.5:c.112T>G | ENSP00000406155.1:p.Trp38Gly | |
| ENST00000425028.5:c.112T>G | ENSP00000395823.1:p.Trp38Gly | |
| ENST00000492535.1:n.100T>G | ||
| NM_012179.3:c.112T>G | NP_036311.3:p.Trp38Gly | |
| XM_011530106.1:c.-62T>G | XP_011528408.1:n.-62T>G | |
| XM_024452207.1:c.-79T>G | XP_024307975.1:n.-79T>G | |
| NM_012179.4:c.112T>G MANE Select | NP_036311.3:p.Trp38Gly |