Linked Data
ClinVar Variation Id:
1506866
ClinVar RCV Id:
RCV002038214
dbSNP Id:
rs747336758
ExAC:
1:197070323 T / G
gnomAD v2:
1-197070323-T-G
gnomAD v3:
1-197101193-T-G
gnomAD v4:
1-197101193-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101193T>G , CM000663.2:g.197101193T>G | GRCh38 |
| NC_000001.10:g.197070323T>G , CM000663.1:g.197070323T>G | GRCh37 |
| NC_000001.9:g.195336946T>G | NCBI36 |
| NG_015867.1:g.50502A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-5029A>C | ||
| ENST00000367409.9:c.8058A>C MANE Select | ENSP00000356379.4:p.Gln2686His | |
| ENST00000680265.1:c.8058A>C | ENSP00000505384.1:p.Gln2686His | |
| ENST00000680710.1:c.8058A>C | ENSP00000506676.1:p.Gln2686His | |
| ENST00000294732.11:c.4066-5029A>C | ENSP00000294732.7:n.4066-5029A>C | |
| ENST00000367408.5:c.1816-5029A>C | ENSP00000356378.1:n.1816-5029A>C | |
| ENST00000367409.8:c.8058A>C | ENSP00000356379.4:p.Gln2686His | |
| ENST00000612785.1:c.2016A>C | ENSP00000479244.1:p.Gln672His | |
| NM_001206846.1:c.4066-5029A>C | NP_001193775.1:n.4066-5029A>C | |
| NM_018136.4:c.8058A>C | NP_060606.3:p.Gln2686His | |
| NM_018136.5:c.8058A>C MANE Select | NP_060606.3:p.Gln2686His | |
| NM_001206846.2:c.4066-5029A>C | NP_001193775.1:n.4066-5029A>C |