Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31430328A>G , CM000673.2:g.31430328A>G | GRCh38 |
| NC_000011.9:g.31451875A>G , CM000673.1:g.31451875A>G | GRCh37 |
| NC_000011.8:g.31408451A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181706.5:c.377A>G MANE Select | NP_859057.4:p.Asp126Gly |
| ENST00000465995.6:c.377A>G MANE Select | ENSP00000417548.1:p.Asp126Gly |
| NM_181706.4:c.377A>G | NP_859057.4:p.Asp126Gly |
| ENST00000395949.2:c.251A>G | |
| ENST00000465995.5:c.377A>G | ENSP00000417548.1:p.Asp126Gly |
| ENST00000530125.1:n.358A>G | |
| XR_001747771.2:n.881A>G | |
| XR_002957125.1:n.607A>G | |
| XR_930844.1:n.632A>G |