Linked Data
ClinVar Variation Id:
64355
ClinVar RCV Id:
RCV000054548
dbSNP Id:
rs377750405
ExAC:
9:101542517 T / C
gnomAD v2:
9-101542517-T-C
gnomAD v3:
9-98780235-T-C
gnomAD v4:
9-98780235-T-C
PubMed:
PMID:23793029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98780235T>C , CM000671.2:g.98780235T>C | GRCh38 |
| NC_000009.11:g.101542517T>C , CM000671.1:g.101542517T>C | GRCh37 |
| NC_000009.10:g.100582338T>C | NCBI36 |
| NG_042237.1:g.21308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.1322A>G MANE Select | ENSP00000297837.6:p.Gln441Arg | |
| ENST00000353234.4:c.1322A>G | ENSP00000297837.6:p.Gln441Arg | |
| ENST00000375019.6:c.419A>G | ENSP00000364159.2:p.Gln140Arg | |
| ENST00000634393.1:n.422A>G | ||
| NM_173551.3:c.1322A>G | NP_775822.3:p.Gln441Arg | |
| NM_173551.4:c.1322A>G | NP_775822.3:p.Gln441Arg | |
| XM_005251793.3:c.1322A>G | XP_005251850.1:p.Gln441Arg | |
| XM_005251794.3:c.1322A>G | XP_005251851.1:p.Gln441Arg | |
| XM_006716998.2:c.1322A>G | XP_006717061.1:p.Gln441Arg | |
| XM_006716999.2:c.1148A>G | XP_006717062.1:p.Gln383Arg | |
| XM_011518356.1:c.1322A>G | XP_011516658.1:p.Gln441Arg | |
| XM_011518357.1:c.332A>G | XP_011516659.1:p.Gln111Arg | |
| XR_242576.3:n.1360A>G | ||
| XR_428520.2:n.1361A>G | ||
| XR_929736.1:n.1361A>G | ||
| XR_929737.1:n.427A>G | ||
| XM_005251793.4:c.1322A>G | XP_005251850.1:p.Gln441Arg | |
| XM_005251794.4:c.1322A>G | XP_005251851.1:p.Gln441Arg | |
| XM_006716998.3:c.1322A>G | XP_006717061.1:p.Gln441Arg | |
| XM_006716999.3:c.1148A>G | XP_006717062.1:p.Gln383Arg | |
| XM_017014445.1:c.1322A>G | XP_016869934.1:p.Gln441Arg | |
| XM_017014447.1:c.71A>G | XP_016869936.1:p.Gln24Arg | |
| XM_024447445.1:c.1040A>G | XP_024303213.1:p.Gln347Arg | |
| XM_024447447.1:c.737A>G | XP_024303215.1:p.Gln246Arg | |
| XR_001746230.1:n.427A>G | ||
| XR_428520.3:n.1360A>G | ||
| XR_929736.2:n.1360A>G | ||
| NM_173551.5:c.1322A>G MANE Select | NP_775822.3:p.Gln441Arg |