Linked Data
ClinVar Variation Id:
212722
dbSNP Id:
rs148245202
ExAC:
1:197069823 C / T
gnomAD v2:
1-197069823-C-T
gnomAD v3:
1-197100693-C-T
gnomAD v4:
1-197100693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197100693C>T , CM000663.2:g.197100693C>T | GRCh38 |
| NC_000001.10:g.197069823C>T , CM000663.1:g.197069823C>T | GRCh37 |
| NC_000001.9:g.195336446C>T | NCBI36 |
| NG_015867.1:g.51002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-4529G>A | ||
| ENST00000367409.9:c.8558G>A MANE Select | ENSP00000356379.4:p.Arg2853Gln | |
| ENST00000680265.1:c.8558G>A | ENSP00000505384.1:p.Arg2853Gln | |
| ENST00000680710.1:c.8558G>A | ENSP00000506676.1:p.Arg2853Gln | |
| ENST00000294732.11:c.4066-4529G>A | ENSP00000294732.7:n.4066-4529G>A | |
| ENST00000367408.5:c.1816-4529G>A | ENSP00000356378.1:n.1816-4529G>A | |
| ENST00000367409.8:c.8558G>A | ENSP00000356379.4:p.Arg2853Gln | |
| ENST00000612785.1:c.2516G>A | ENSP00000479244.1:p.Arg839Gln | |
| NM_001206846.1:c.4066-4529G>A | NP_001193775.1:n.4066-4529G>A | |
| NM_018136.4:c.8558G>A | NP_060606.3:p.Arg2853Gln | |
| NM_018136.5:c.8558G>A MANE Select | NP_060606.3:p.Arg2853Gln | |
| NM_001206846.2:c.4066-4529G>A | NP_001193775.1:n.4066-4529G>A |