gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247453734G>C , CM000663.2:g.247453734G>C | GRCh38 |
| NC_000001.10:g.247617036G>C , CM000663.1:g.247617036G>C | GRCh37 |
| NC_000001.9:g.245683659G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641149.2:c.-1752C>G MANE Select | ENSP00000492892.1:n.-1752C>G | |
| ENST00000641149.1:c.-1752C>G | ENSP00000492892.1:n.-1752C>G | |
| ENST00000641527.1:c.-1101-651C>G | ENSP00000493421.1:n.-1101-651C>G | |
| ENST00000641613.1:n.482+1219C>G | ||
| NM_001004492.2:c.-1752C>G MANE Select | NP_001004492.1:n.-1752C>G | |
| NR_169840.1:n.482+1219C>G |