Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40212488A>G , CM000677.2:g.40212488A>G | GRCh38 |
| NC_000015.9:g.40504689A>G , CM000677.1:g.40504689A>G | GRCh37 |
| NC_000015.8:g.38291981A>G | NCBI36 |
| NG_016338.1:g.56480A>G , LRG_489:g.56480A>G | |
| NG_033169.1:g.61A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2386-11A>G MANE Select | NP_001202.5:n.2386-11A>G |
| ENST00000287598.11:c.2386-11A>G MANE Select | ENSP00000287598.7:n.2386-11A>G |
| NM_001211.5:c.2386-11A>G , LRG_489t1:c.2386-11A>G | NP_001202.4:n.2386-11A>G |
| ENST00000287598.10:c.2386-11A>G | ENSP00000287598.6:n.2386-11A>G |
| ENST00000412359.7:c.2428-11A>G | ENSP00000398470.3:n.2428-11A>G |
| XR_001751506.1:n.217+26997T>C |