Linked Data
ClinVar Variation Id:
844605
ClinVar RCV Id:
RCV001047497
dbSNP Id:
rs375477745
ExAC:
1:32740918 G / T
gnomAD v2:
1-32740918-G-T
gnomAD v4:
1-32275317-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32275317G>T , CM000663.2:g.32275317G>T | GRCh38 |
| NC_000001.10:g.32740918G>T , CM000663.1:g.32740918G>T | GRCh37 |
| NC_000001.9:g.32513505G>T | NCBI36 |
| NG_023387.1:g.29079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355928.8:n.798G>T | ||
| ENST00000482949.6:c.453-4G>T | ENSP00000431517.2:n.453-4G>T | |
| ENST00000495610.7:c.279-4G>T | ENSP00000435605.2:n.279-4G>T | |
| ENST00000696990.1:c.188-4G>T | ENSP00000513026.1:n.188-4G>T | |
| ENST00000336890.10:c.279-4G>T MANE Select | ENSP00000337825.5:n.279-4G>T | |
| ENST00000333070.4:c.279-4G>T | ENSP00000328213.4:n.279-4G>T | |
| ENST00000336890.9:c.279-4G>T | ENSP00000337825.5:n.279-4G>T | |
| ENST00000373557.6:c.411-4G>T | ENSP00000362658.2:n.411-4G>T | |
| ENST00000373562.7:c.279-4G>T | ENSP00000362663.3:n.279-4G>T | |
| ENST00000373564.7:c.453-4G>T | ENSP00000362665.3:n.453-4G>T | |
| ENST00000469765.5:n.338-4G>T | ||
| ENST00000476457.5:n.591G>T | ||
| ENST00000482949.5:c.453-4G>T | ENSP00000431517.1:n.453-4G>T | |
| ENST00000495610.6:c.279-4G>T | ENSP00000435605.1:n.279-4G>T | |
| ENST00000619559.4:c.279-4G>T | ENSP00000477713.1:n.279-4G>T | |
| NM_001042771.2:c.279-4G>T | NP_001036236.1:n.279-4G>T | |
| NM_005356.4:c.279-4G>T | NP_005347.3:n.279-4G>T | |
| XM_011541453.1:c.453-4G>T | XP_011539755.1:n.453-4G>T | |
| XM_011541454.1:c.453-4G>T | XP_011539756.1:n.453-4G>T | |
| XM_011541455.1:c.279-4G>T | XP_011539757.1:n.279-4G>T | |
| NM_001330468.1:c.279-4G>T | NP_001317397.1:n.279-4G>T | |
| XM_011541453.3:c.453-4G>T | XP_011539755.1:n.453-4G>T | |
| XM_024447046.1:c.453-4G>T | XP_024302814.1:n.453-4G>T | |
| XM_024447047.1:c.453-4G>T | XP_024302815.1:n.453-4G>T | |
| NM_005356.5:c.279-4G>T MANE Select | NP_005347.3:n.279-4G>T | |
| NM_001330468.2:c.279-4G>T | NP_001317397.1:n.279-4G>T | |
| NM_001042771.3:c.279-4G>T | NP_001036236.1:n.279-4G>T |