Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253096C>G , CM000677.2:g.38253096C>G | GRCh38 |
| NC_000015.9:g.38545297C>G , CM000677.1:g.38545297C>G | GRCh37 |
| NC_000015.8:g.36332589C>G | NCBI36 |
| NG_008980.1:g.5246C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-90C>G MANE Select | ENSP00000299084.4:n.-90C>G | |
| ENST00000299084.8:c.-90C>G | ENSP00000299084.4:n.-90C>G | |
| ENST00000561205.1:n.249C>G | ||
| NM_152594.2:c.-90C>G | NP_689807.1:n.-90C>G | |
| XM_005254202.2:c.-90C>G | XP_005254259.1:n.-90C>G | |
| XM_005254203.3:c.-137C>G | XP_005254260.1:n.-137C>G | |
| XM_005254202.3:c.-90C>G | XP_005254259.1:n.-90C>G | |
| XR_001751484.1:n.87+471G>C | ||
| NM_152594.3:c.-90C>G MANE Select | NP_689807.1:n.-90C>G |