Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154811T>C , CM000681.2:g.55154811T>C | GRCh38 |
| NC_000019.9:g.55666179T>C , CM000681.1:g.55666179T>C | GRCh37 |
| NC_000019.8:g.60357991T>C | NCBI36 |
| NG_007866.2:g.7922A>G , LRG_432:g.7922A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.302A>G MANE Select | ENSP00000341838.5:p.His101Arg | |
| ENST00000665070.1:c.302A>G | ENSP00000499482.1:p.His101Arg | |
| ENST00000344887.9:c.302A>G | ENSP00000341838.5:p.His101Arg | |
| ENST00000585806.5:n.301A>G | ||
| ENST00000586669.5:n.310A>G | ||
| ENST00000587176.5:n.486A>G | ||
| ENST00000587871.1:c.921A>G | ||
| ENST00000588882.1:c.227A>G | ENSP00000466729.1:p.His76Arg | |
| ENST00000590463.1:n.474A>G | ||
| NM_000363.4:c.302A>G , LRG_432t1:c.302A>G | NP_000354.4:p.His101Arg | |
| NM_000363.5:c.302A>G MANE Select | NP_000354.4:p.His101Arg |