Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19966560A>G , CM000670.2:g.19966560A>G | GRCh38 |
| NC_000008.10:g.19824071A>G , CM000670.1:g.19824071A>G | GRCh37 |
| NC_000008.9:g.19868351A>G | NCBI36 |
| NG_008855.1:g.32490A>G | |
| NG_008855.2:g.69844A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000237.3:c.*1250A>G MANE Select | NP_000228.1:n.*1250A>G |
| ENST00000650287.1:c.*1250A>G MANE Select | ENSP00000497642.1:n.*1250A>G |
| NM_000237.2:c.*1250A>G | NP_000228.1:n.*1250A>G |
| ENST00000311322.8:c.*1250A>G | ENSP00000309757.6:n.*1250A>G |
| ENST00000650478.1:c.1618A>G | ENSP00000497560.1:n.1618A>G |