Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40213030G>C , CM000677.2:g.40213030G>C | GRCh38 |
| NC_000015.9:g.40505231G>C , CM000677.1:g.40505231G>C | GRCh37 |
| NC_000015.8:g.38292523G>C | NCBI36 |
| NG_016338.1:g.57022G>C , LRG_489:g.57022G>C | |
| NG_033169.1:g.603G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2536-302G>C MANE Select | NP_001202.5:n.2536-302G>C |
| ENST00000287598.11:c.2536-302G>C MANE Select | ENSP00000287598.7:n.2536-302G>C |
| NM_001211.5:c.2536-302G>C , LRG_489t1:c.2536-302G>C | NP_001202.4:n.2536-302G>C |
| ENST00000287598.10:c.2536-302G>C | ENSP00000287598.6:n.2536-302G>C |
| ENST00000412359.7:c.2578-302G>C | ENSP00000398470.3:n.2578-302G>C |
| XR_001751506.1:n.217+26455C>G |