Linked Data
dbSNP Id:
rs532122242
gnomAD v2:
15-80445334-C-G
gnomAD v3:
15-80152992-C-G
gnomAD v4:
15-80152992-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152992C>G , CM000677.2:g.80152992C>G | GRCh38 |
| NC_000015.9:g.80445334C>G , CM000677.1:g.80445334C>G | GRCh37 |
| NC_000015.8:g.78232389C>G | NCBI36 |
| NG_012833.1:g.4994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-63C>G | ENSP00000507680.1:n.-63C>G | |
| ENST00000682012.1:n.13C>G | ||
| ENST00000261755.9:c.-29-34C>G | ENSP00000261755.5:n.-29-34C>G | |
| ENST00000407106.5:c.-29-34C>G | ENSP00000385080.1:n.-29-34C>G | |
| ENST00000537726.5:n.54-34C>G | ||
| ENST00000558022.5:c.-29-34C>G | ENSP00000453152.1:n.-29-34C>G | |
| ENST00000558767.5:n.199C>G | ||
| ENST00000561369.1:n.52-34C>G | ||
| ENST00000561421.5:c.-63C>G | ENSP00000453347.1:n.-63C>G | |
| NM_000137.2:c.-63C>G | NP_000128.1:n.-63C>G | |
| XM_024449872.1:c.-29-34C>G | XP_024305640.1:n.-29-34C>G | |
| NM_001374377.1:c.-29-34C>G | NP_001361306.1:n.-29-34C>G | |
| NM_001374380.1:c.-29-34C>G | NP_001361309.1:n.-29-34C>G |