Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517201T>C , CM000674.2:g.52517201T>C | GRCh38 |
| NC_000012.11:g.52910985T>C , CM000674.1:g.52910985T>C | GRCh37 |
| NC_000012.10:g.51197252T>C | NCBI36 |
| NG_008297.1:g.8259A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1124A>G MANE Select | NP_000415.2:p.His375Arg |
| ENST00000252242.9:c.1124A>G MANE Select | ENSP00000252242.4:p.His375Arg |
| NM_000424.3:c.1124A>G | NP_000415.2:p.His375Arg |
| ENST00000252242.8:c.1124A>G | ENSP00000252242.4:p.His375Arg |
| ENST00000547890.5:n.253A>G | |
| ENST00000548409.5:c.246A>G | |
| ENST00000549511.5:n.331A>G | |
| ENST00000551013.1:n.762A>G | |
| ENST00000551188.5:c.567A>G | |
| ENST00000552629.5:n.1222A>G |