dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26445658C>G , CM000672.2:g.26445658C>G | GRCh38 |
| NC_000010.10:g.26734587C>G , CM000672.1:g.26734587C>G | GRCh37 |
| NC_000010.9:g.26774593C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376236.9:c.-1+6805C>G MANE Select | ENSP00000365411.4:n.-1+6805C>G | |
| ENST00000356785.4:c.-1+6805C>G | ENSP00000349237.4:n.-1+6805C>G | |
| ENST00000376236.8:c.-1+6805C>G | ENSP00000365411.4:n.-1+6805C>G | |
| NM_019043.3:c.-1+6805C>G | NP_061916.3:n.-1+6805C>G | |
| XM_011519514.1:c.-1+6805C>G | XP_011517816.1:n.-1+6805C>G | |
| XM_011519514.2:c.-1+6805C>G | XP_011517816.1:n.-1+6805C>G | |
| NM_019043.4:c.-1+6805C>G MANE Select | NP_061916.3:n.-1+6805C>G |