Linked Data
ClinVar Variation Id:
1501
ClinVar RCV Id:
RCV000001566
dbSNP Id:
rs118204092
PubMed:
PMID:17458872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75953469T>C , CM000679.2:g.75953469T>C | GRCh38 |
| NC_000017.10:g.73949550T>C , CM000679.1:g.73949550T>C | GRCh37 |
| NC_000017.9:g.71461145T>C | NCBI36 |
| NG_008190.1:g.30895A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301608.9:c.926A>G | ENSP00000301608.4:p.Gln309Arg | |
| ENST00000293217.10:c.926A>G MANE Select | ENSP00000293217.4:p.Gln309Arg | |
| ENST00000293217.9:c.926A>G | ENSP00000293217.4:p.Gln309Arg | |
| ENST00000301608.8:c.926A>G | ENSP00000301608.4:p.Gln309Arg | |
| ENST00000572047.5:c.1100A>G | ENSP00000459936.1:n.1100A>G | |
| ENST00000573078.5:c.*415A>G | ENSP00000458325.1:n.*415A>G | |
| ENST00000589744.1:n.176A>G | ||
| NM_001185039.1:c.812A>G | NP_001171968.1:p.Gln271Arg | |
| NM_004035.6:c.926A>G | NP_004026.2:p.Gln309Arg | |
| NM_007292.5:c.926A>G | NP_009223.2:p.Gln309Arg | |
| XM_011524868.1:c.722A>G | XP_011523170.1:p.Gln241Arg | |
| XM_011524869.1:c.518A>G | XP_011523171.1:p.Gln173Arg | |
| XM_011524868.3:c.722A>G | XP_011523170.1:p.Gln241Arg | |
| XM_011524869.3:c.518A>G | XP_011523171.1:p.Gln173Arg | |
| NM_004035.7:c.926A>G MANE Select | NP_004026.2:p.Gln309Arg | |
| NM_001185039.2:c.812A>G | NP_001171968.1:p.Gln271Arg | |
| NM_007292.6:c.926A>G | NP_009223.2:p.Gln309Arg |