Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71814066A>G , CM000677.2:g.71814066A>G | GRCh38 |
| NC_000015.9:g.72106407A>G , CM000677.1:g.72106407A>G | GRCh37 |
| NC_000015.8:g.69893461A>G | NCBI36 |
| NG_009113.2:g.8512A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.1049A>G MANE Select | NP_055064.1:p.Gln350Arg |
| ENST00000617575.5:c.1049A>G MANE Select | ENSP00000482504.1:p.Gln350Arg |
| NM_014249.3:c.1049A>G | NP_055064.1:p.Gln350Arg |
| NM_016346.3:c.1049A>G | NP_057430.1:p.Gln350Arg |
| NM_016346.4:c.1049A>G | NP_057430.1:p.Gln350Arg |
| ENST00000617575.4:c.1049A>G | ENSP00000482504.1:p.Gln350Arg |
| ENST00000621098.1:c.1049A>G | ENSP00000479962.1:p.Gln350Arg |
| ENST00000621736.4:c.785A>G | ENSP00000479254.1:p.Gln262Arg |
| XM_011521146.1:c.785A>G | XP_011519448.1:p.Gln262Arg |