Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34372606A>C , CM000671.2:g.34372606A>C | GRCh38 |
| NC_000009.11:g.34372604A>C , CM000671.1:g.34372604A>C | GRCh37 |
| NC_000009.10:g.34362604A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020702.5:c.338T>G MANE Select | NP_065753.2:p.Leu113Arg |
| ENST00000297625.8:c.338T>G MANE Select | ENSP00000297625.8:p.Leu113Arg |
| NM_020702.4:c.338T>G | NP_065753.2:p.Leu113Arg |
| ENST00000297625.7:c.338T>G | ENSP00000297625.8:p.Leu113Arg |
| ENST00000379142.3:c.216+11T>G | ENSP00000368437.2:n.216+11T>G |
| XM_011517966.1:c.338T>G | XP_011516268.1:p.Leu113Arg |
| XM_011517966.3:c.338T>G | XP_011516268.1:p.Leu113Arg |
| XM_017014930.2:c.338T>G | XP_016870419.1:p.Leu113Arg |