Linked Data
ClinVar Variation Id:
138517
dbSNP Id:
rs116604978
ExAC:
2:69664560 T / C
gnomAD v2:
2-69664560-T-C
gnomAD v3:
2-69437428-T-C
gnomAD v4:
2-69437428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69437428T>C , CM000664.2:g.69437428T>C | GRCh38 |
| NC_000002.11:g.69664560T>C , CM000664.1:g.69664560T>C | GRCh37 |
| NC_000002.10:g.69518064T>C | NCBI36 |
| NG_031931.1:g.5201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410022.7:c.-6A>G MANE Select | ENSP00000387219.3:n.-6A>G | |
| ENST00000303698.7:c.-168A>G | ENSP00000306965.3:n.-168A>G | |
| ENST00000394305.5:c.-383A>G | ENSP00000377842.1:n.-383A>G | |
| ENST00000410022.6:c.-6A>G | ENSP00000387219.2:n.-6A>G | |
| ENST00000419370.5:c.-78A>G | ENSP00000405495.1:n.-78A>G | |
| ENST00000471185.5:n.8A>G | ||
| NM_001002755.2:c.-6A>G | NP_001002755.1:n.-6A>G | |
| NM_001002756.2:c.-383A>G | NP_001002756.1:n.-383A>G | |
| NM_015700.3:c.-168A>G | NP_056515.2:n.-168A>G | |
| NR_045631.1:n.201A>G | ||
| NR_045632.1:n.201A>G | ||
| XM_017003808.2:c.-11+625A>G | XP_016859297.1:n.-11+625A>G | |
| NM_001002755.4:c.-6A>G MANE Select | NP_001002755.1:n.-6A>G | |
| NM_001374284.1:c.-11+625A>G | NP_001361213.1:n.-11+625A>G | |
| NM_015700.4:c.-168A>G | NP_056515.2:n.-168A>G | |
| NR_045631.2:n.8A>G | ||
| NR_045632.2:n.8A>G |