gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240558252C>G , CM000663.2:g.240558252C>G | GRCh38 |
| NC_000001.10:g.240721552C>G , CM000663.1:g.240721552C>G | GRCh37 |
| NC_000001.9:g.238788175C>G | NCBI36 |
| NG_053136.1:g.59121G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318160.5:c.-2+53632G>C MANE Select | ENSP00000318650.4:n.-2+53632G>C | |
| ENST00000318160.4:c.-2+53632G>C | ENSP00000318650.4:n.-2+53632G>C | |
| NM_022469.3:c.-2+53632G>C | NP_071914.3:n.-2+53632G>C | |
| XM_011544249.1:c.-122+53632G>C | XP_011542551.1:n.-122+53632G>C | |
| XR_949319.1:n.219+2040C>G | ||
| XM_011544249.2:c.-122+53632G>C | XP_011542551.1:n.-122+53632G>C | |
| NM_022469.4:c.-2+53632G>C MANE Select | NP_071914.3:n.-2+53632G>C |