dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69819192G>C , CM000673.2:g.69819192G>C | GRCh38 |
| NC_000011.9:g.69633960G>C , CM000673.1:g.69633960G>C | GRCh37 |
| NC_000011.8:g.69342897G>C | NCBI36 |
| NG_009016.1:g.5233C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334134.4:c.-259C>G MANE Select | ENSP00000334122.2:n.-259C>G | |
| NM_005247.2:c.-259C>G | NP_005238.1:n.-259C>G | |
| XR_001748071.1:n.86+119G>C | ||
| NM_005247.3:c.-259C>G | NP_005238.1:n.-259C>G | |
| NM_005247.4:c.-259C>G MANE Select | NP_005238.1:n.-259C>G |