Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2306165A>G , CM000663.2:g.2306165A>G | GRCh38 |
| NC_000001.10:g.2237604A>G , CM000663.1:g.2237604A>G | GRCh37 |
| NC_000001.9:g.2227464A>G | NCBI36 |
| NG_013084.1:g.82471A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.1913A>G MANE Select | NP_003027.1:p.Lys638Arg |
| ENST00000378536.5:c.1913A>G MANE Select | ENSP00000367797.4:p.Lys638Arg |
| NM_003036.3:c.1913A>G | NP_003027.1:p.Lys638Arg |
| ENST00000378536.4:c.1913A>G | ENSP00000367797.4:p.Lys638Arg |
| XM_005244775.2:c.1919A>G | XP_005244832.1:p.Lys640Arg |
| XM_005244775.3:c.1919A>G | XP_005244832.1:p.Lys640Arg |
| XM_005244776.3:c.1049A>G | XP_005244833.1:p.Lys350Arg |
| XM_005244776.4:c.1049A>G | XP_005244833.1:p.Lys350Arg |
| XM_017002128.1:c.1427A>G | XP_016857617.1:p.Lys476Arg |