Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930156A>G , CM000685.2:g.119930156A>G | GRCh38 |
| NC_000023.10:g.119064119A>G , CM000685.1:g.119064119A>G | GRCh37 |
| NC_000023.9:g.118948147A>G | NCBI36 |
| NG_021260.1:g.18617T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.933T>C MANE Select | ENSP00000360464.3:p.His311= | |
| ENST00000652253.1:c.929T>C | ||
| ENST00000371410.4:c.933T>C | ENSP00000360464.3:p.His311= | |
| ENST00000477789.5:n.1861T>C | ||
| ENST00000482407.1:n.732T>C | ||
| NM_024528.3:c.933T>C | NP_078804.2:p.His311= | |
| XM_017029842.1:c.636T>C | XP_016885331.1:p.His212= | |
| NM_024528.4:c.933T>C MANE Select | NP_078804.2:p.His311= |