Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44829681T>C , CM000663.2:g.44829681T>C | GRCh38 |
| NC_000001.10:g.45295353T>C , CM000663.1:g.45295353T>C | GRCh37 |
| NC_000001.9:g.45067940T>C | NCBI36 |
| NG_013369.1:g.18264A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.1016A>G MANE Select | NP_003729.3:p.His339Arg |
| ENST00000372192.4:c.1016A>G MANE Select | ENSP00000361266.3:p.His339Arg |
| NM_001166292.1:c.1016A>G | NP_001159764.1:p.His339Arg |
| NM_001166292.2:c.1016A>G | NP_001159764.1:p.His339Arg |
| NM_003738.4:c.1016A>G | NP_003729.3:p.His339Arg |
| ENST00000372192.3:c.1016A>G | ENSP00000361266.3:p.His339Arg |
| ENST00000447098.6:c.1016A>G | ENSP00000389703.2:p.His339Arg |