Linked Data
ClinVar Variation Id:
522968
ClinVar RCV Id:
RCV000626165
dbSNP Id:
rs867045420
gnomAD v2:
1-20981107-C-G
gnomAD v4:
1-20654614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20654614C>G , CM000663.2:g.20654614C>G | GRCh38 |
| NC_000001.10:g.20981107C>G , CM000663.1:g.20981107C>G | GRCh37 |
| NC_000001.9:g.20853694C>G | NCBI36 |
| NG_032064.1:g.11931G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602624.7:c.645G>C MANE Select | ENSP00000473655.2:p.Gln215His | |
| ENST00000375048.7:c.696G>C | ENSP00000364188.3:p.Gln232His | |
| ENST00000415136.6:c.696G>C | ENSP00000399457.3:p.Gln232His | |
| ENST00000602624.6:c.645G>C | ENSP00000473655.1:p.Gln215His | |
| NM_005216.4:c.696G>C | NP_005207.2:p.Gln232His | |
| NM_005216.5:c.645G>C MANE Select | NP_005207.3:p.Gln215His |