Linked Data
ClinVar Variation Id:
1308824
ClinVar RCV Id:
RCV001754712
dbSNP Id:
rs1270956851
gnomAD v2:
1-241672005-C-G
gnomAD v4:
1-241508705-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508705C>G , CM000663.2:g.241508705C>G | GRCh38 |
| NC_000001.10:g.241672005C>G , CM000663.1:g.241672005C>G | GRCh37 |
| NC_000001.9:g.239738628C>G | NCBI36 |
| NG_012338.1:g.16050G>C , LRG_504:g.16050G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1139G>C | ||
| ENST00000682162.1:c.665G>C | ENSP00000508203.1:n.665G>C | |
| ENST00000682567.1:n.713G>C | ||
| ENST00000683521.1:c.636G>C | ENSP00000506864.1:p.Gln212His | |
| ENST00000684161.1:n.1851G>C | ||
| ENST00000684483.1:c.*32G>C | ENSP00000507894.1:n.*32G>C | |
| ENST00000366560.4:c.636G>C MANE Select | ENSP00000355518.4:p.Gln212His | |
| ENST00000366560.3:c.636G>C | ENSP00000355518.3:p.Gln212His | |
| NM_000143.3:c.636G>C , LRG_504t1:c.636G>C | NP_000134.2:p.Gln212His | |
| XM_011544132.1:c.408G>C | XP_011542434.1:p.Gln136His | |
| XM_011544132.2:c.408G>C | XP_011542434.1:p.Gln136His | |
| NM_000143.4:c.636G>C MANE Select | NP_000134.2:p.Gln212His |