Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2304455G>A , CM000663.2:g.2304455G>A | GRCh38 |
| NC_000001.10:g.2235894G>A , CM000663.1:g.2235894G>A | GRCh37 |
| NC_000001.9:g.2225754G>A | NCBI36 |
| NG_013084.1:g.80761G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.1637G>A MANE Select | NP_003027.1:p.Arg546Gln |
| ENST00000378536.5:c.1637G>A MANE Select | ENSP00000367797.4:p.Arg546Gln |
| NM_003036.3:c.1637G>A | NP_003027.1:p.Arg546Gln |
| ENST00000378536.4:c.1637G>A | ENSP00000367797.4:p.Arg546Gln |
| XM_005244775.2:c.1643G>A | XP_005244832.1:p.Arg548Gln |
| XM_005244775.3:c.1643G>A | XP_005244832.1:p.Arg548Gln |
| XM_005244776.3:c.773G>A | XP_005244833.1:p.Arg258Gln |
| XM_005244776.4:c.773G>A | XP_005244833.1:p.Arg258Gln |
| XM_017002128.1:c.1151G>A | XP_016857617.1:p.Arg384Gln |