Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85540612C>G , CM000664.2:g.85540612C>G | GRCh38 |
| NC_000002.11:g.85767735C>G , CM000664.1:g.85767735C>G | GRCh37 |
| NC_000002.10:g.85621246C>G | NCBI36 |
| NG_029183.1:g.6635C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306434.8:c.92-471C>G MANE Select | ENSP00000303147.3:n.92-471C>G | |
| ENST00000306434.7:c.92-471C>G | ENSP00000303147.3:n.92-471C>G | |
| ENST00000409017.1:c.-98-471C>G | ENSP00000386353.1:n.-98-471C>G | |
| ENST00000465151.5:n.212-471C>G | ||
| ENST00000469221.5:n.212-471C>G | ||
| ENST00000481412.5:n.70-471C>G | ||
| NM_005911.5:c.92-471C>G | NP_005902.1:n.92-471C>G | |
| NM_005911.6:c.92-471C>G MANE Select | NP_005902.1:n.92-471C>G |