dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62917758C>G , CM000673.2:g.62917758C>G | GRCh38 |
| NC_000011.9:g.62685230C>G , CM000673.1:g.62685230C>G | GRCh37 |
| NC_000011.8:g.62441806C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306960.4:c.-79+3460G>C MANE Select | ENSP00000306490.3:n.-79+3460G>C | |
| ENST00000306960.3:c.-79+3460G>C | ENSP00000306490.3:n.-79+3460G>C | |
| ENST00000543973.1:c.-79+2915G>C | ENSP00000441188.1:n.-79+2915G>C | |
| NM_000738.2:c.-79+3460G>C | NP_000729.2:n.-79+3460G>C | |
| XM_011544742.1:c.-79+4080G>C | XP_011543044.1:n.-79+4080G>C | |
| XM_011544742.2:c.-79+4080G>C | XP_011543044.1:n.-79+4080G>C | |
| XR_002957251.1:n.394-168C>G | ||
| NM_000738.3:c.-79+3460G>C MANE Select | NP_000729.2:n.-79+3460G>C |