Linked Data
ClinVar Variation Id:
218612
ClinVar RCV Id:
RCV000203134
dbSNP Id:
rs147665041
ExAC:
1:236157150 C / G
gnomAD v2:
1-236157150-C-G
gnomAD v3:
1-235993850-C-G
gnomAD v4:
1-235993850-C-G
COSMIC:
COSM3689449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235993850C>G , CM000663.2:g.235993850C>G | GRCh38 |
| NC_000001.10:g.236157150C>G , CM000663.1:g.236157150C>G | GRCh37 |
| NC_000001.9:g.234223773C>G | NCBI36 |
| NG_033228.1:g.76332G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264187.7:c.2550G>C MANE Select | ENSP00000264187.6:p.Gln850His | |
| ENST00000264187.6:c.2550G>C | ENSP00000264187.6:p.Gln850His | |
| ENST00000366595.7:c.2151G>C | ENSP00000355554.3:p.Gln717His | |
| NM_002508.2:c.2550G>C | NP_002499.2:p.Gln850His | |
| XM_011544195.1:c.2424G>C | XP_011542497.1:p.Gln808His | |
| XM_011544195.3:c.2424G>C | XP_011542497.1:p.Gln808His | |
| NM_002508.3:c.2550G>C MANE Select | NP_002499.2:p.Gln850His |