Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443394T>C , CM000682.2:g.33443394T>C | GRCh38 |
| NC_000020.10:g.32031200T>C , CM000682.1:g.32031200T>C | GRCh37 |
| NC_000020.9:g.31494861T>C | NCBI36 |
| NG_011622.1:g.5499A>G , LRG_332:g.5499A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003098.3:c.227A>G MANE Select | NP_003089.1:p.Gln76Arg |
| ENST00000217381.3:c.227A>G MANE Select | ENSP00000217381.2:p.Gln76Arg |
| NM_003098.2:c.227A>G , LRG_332t1:c.227A>G | NP_003089.1:p.Gln76Arg |
| ENST00000217381.2:c.227A>G | ENSP00000217381.2:p.Gln76Arg |
| XM_005260517.1:c.227A>G | XP_005260574.1:p.Gln76Arg |
| XM_011529007.1:c.227A>G | XP_011527309.1:p.Gln76Arg |
| XM_011529008.1:c.227A>G | XP_011527310.1:p.Gln76Arg |
| XR_936612.1:n.460A>G |