Linked Data
ClinVar Variation Id:
362726
ClinVar RCV Id:
RCV000276673
dbSNP Id:
rs111510470
gnomAD v2:
8-27632073-T-G
gnomAD v3:
8-27774556-T-G
gnomAD v4:
8-27774556-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27774556T>G , CM000670.2:g.27774556T>G | GRCh38 |
| NC_000008.10:g.27632073T>G , CM000670.1:g.27632073T>G | GRCh37 |
| NC_000008.9:g.27687992T>G | NCBI36 |
| NG_008117.1:g.5016T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.-68T>G MANE Select | ENSP00000306999.8:n.-68T>G | |
| ENST00000305188.12:c.-68T>G | ENSP00000306999.8:n.-68T>G | |
| ENST00000522378.5:c.-68T>G | ENSP00000428928.1:n.-68T>G | |
| ENST00000523566.5:c.-16-943T>G | ENSP00000428435.1:n.-16-943T>G | |
| NM_001017420.2:c.-68T>G | NP_001017420.1:n.-68T>G | |
| XM_011544421.1:c.-16-943T>G | XP_011542723.1:n.-16-943T>G | |
| XM_011544422.1:c.-68T>G | XP_011542724.1:n.-68T>G | |
| XR_949378.1:n.17T>G | ||
| XR_949379.1:n.17T>G | ||
| XM_011544421.2:c.-16-943T>G | XP_011542723.1:n.-16-943T>G | |
| XM_011544422.2:c.-68T>G | XP_011542724.1:n.-68T>G | |
| XR_949378.3:n.17T>G | ||
| NM_001017420.3:c.-68T>G MANE Select | NP_001017420.1:n.-68T>G |