Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32110063C>G , CM000684.2:g.32110063C>G | GRCh38 |
| NC_000022.10:g.32506050C>G , CM000684.1:g.32506050C>G | GRCh37 |
| NC_000022.9:g.30836050C>G | NCBI36 |
| NG_017045.1:g.72032C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1845C>G MANE Select | NP_000334.1:p.His615Gln |
| ENST00000266088.9:c.1845C>G MANE Select | ENSP00000266088.4:p.His615Gln |
| NM_000343.3:c.1845C>G | NP_000334.1:p.His615Gln |
| NM_001256314.1:c.1464C>G | NP_001243243.1:p.His488Gln |
| NM_001256314.2:c.1464C>G | NP_001243243.1:p.His488Gln |
| ENST00000266088.8:c.1845C>G | ENSP00000266088.4:p.His615Gln |
| ENST00000543737.2:c.1464C>G | ENSP00000444898.1:p.His488Gln |
| XR_938172.1:n.487-3121G>C | |
| XR_938172.2:n.491-3121G>C | |
| XR_938173.1:n.487-3121G>C | |
| XR_938174.1:n.486+9792G>C |