Linked Data
ClinVar Variation Id:
9125
ClinVar RCV Id:
RCV000009695
dbSNP Id:
rs137852663
gnomAD v2:
10-103531285-G-C
gnomAD v3:
10-101771528-G-C
gnomAD v4:
10-101771528-G-C
PubMed:
PMID:18596921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101771528G>C , CM000672.2:g.101771528G>C | GRCh38 |
| NC_000010.10:g.103531285G>C , CM000672.1:g.103531285G>C | GRCh37 |
| NC_000010.9:g.103521275G>C | NCBI36 |
| NG_007151.1:g.9543C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320185.7:c.379C>G MANE Select | ENSP00000321797.2:p.Arg127Gly | |
| ENST00000618991.5:c.67C>G | ENSP00000484420.1:p.Arg23Gly | |
| ENST00000344255.8:c.346C>G | ENSP00000340039.3:p.Arg116Gly | |
| ENST00000320185.6:c.379C>G | ENSP00000321797.2:p.Arg127Gly | |
| ENST00000344255.7:c.346C>G | ENSP00000340039.3:p.Arg116Gly | |
| ENST00000346714.7:c.259C>G | ENSP00000344306.3:p.Arg87Gly | |
| ENST00000347978.2:c.292C>G | ENSP00000321945.2:p.Arg98Gly | |
| ENST00000469792.6:c.*343C>G | ENSP00000473299.1:n.*343C>G | |
| ENST00000485728.1:n.255C>G | ||
| ENST00000618991.4:c.67C>G | ENSP00000484420.1:p.Arg23Gly | |
| NM_001206389.1:c.67C>G | NP_001193318.1:p.Arg23Gly | |
| NM_006119.4:c.292C>G | NP_006110.1:p.Arg98Gly | |
| NM_033163.3:c.379C>G | NP_149353.1:p.Arg127Gly | |
| NM_033164.3:c.346C>G | NP_149354.1:p.Arg116Gly | |
| NM_033165.3:c.259C>G | NP_149355.1:p.Arg87Gly | |
| XM_011539509.1:c.301C>G | XP_011537811.1:p.Arg101Gly | |
| XR_946251.1:n.309G>C | ||
| XR_946252.1:n.240G>C | ||
| XR_946253.1:n.238G>C | ||
| XR_946252.2:n.330G>C | ||
| XR_946253.2:n.328G>C | ||
| NM_006119.5:c.292C>G | NP_006110.1:p.Arg98Gly | |
| NM_033163.4:c.379C>G | NP_149353.1:p.Arg127Gly | |
| NM_033164.4:c.346C>G | NP_149354.1:p.Arg116Gly | |
| NM_033165.4:c.259C>G | NP_149355.1:p.Arg87Gly | |
| NM_001206389.2:c.67C>G | NP_001193318.1:p.Arg23Gly | |
| NM_006119.6:c.292C>G | NP_006110.1:p.Arg98Gly | |
| NM_033163.5:c.379C>G MANE Select | NP_149353.1:p.Arg127Gly | |
| NM_033165.5:c.259C>G | NP_149355.1:p.Arg87Gly |