Linked Data
ClinVar Variation Id:
1220054
dbSNP Id:
rs750051387
ExAC:
1:151378697 T / C
gnomAD v2:
1-151378697-T-C
gnomAD v3:
1-151406221-T-C
gnomAD v4:
1-151406221-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406221T>C , CM000663.2:g.151406221T>C | GRCh38 |
| NC_000001.10:g.151378697T>C , CM000663.1:g.151378697T>C | GRCh37 |
| NC_000001.9:g.149645321T>C | NCBI36 |
| NG_046601.1:g.58245A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.2862A>G | ENSP00000518163.1:p.Glu954= | |
| ENST00000392723.6:c.2655A>G | ENSP00000376484.1:p.Glu885= | |
| ENST00000439756.2:c.2814A>G | ENSP00000390156.2:p.Glu938= | |
| ENST00000703168.1:c.2835A>G | ENSP00000515214.1:p.Glu945= | |
| ENST00000271715.7:c.2814A>G MANE Select | ENSP00000271715.2:p.Glu938= | |
| ENST00000271715.6:c.2814A>G | ENSP00000271715.2:p.Glu938= | |
| ENST00000358476.7:n.2962A>G | ||
| ENST00000368863.6:c.2529A>G | ENSP00000357856.2:p.Glu843= | |
| ENST00000392723.5:c.2655A>G | ENSP00000376484.1:p.Glu885= | |
| ENST00000409503.5:c.2787A>G | ENSP00000386836.1:p.Glu929= | |
| ENST00000491586.5:c.2682A>G | ENSP00000418408.1:p.Glu894= | |
| ENST00000531094.5:c.2628A>G | ENSP00000431259.1:p.Glu876= | |
| NM_001194937.1:c.2787A>G | NP_001181866.1:p.Glu929= | |
| NM_001194938.1:c.2628A>G | NP_001181867.1:p.Glu876= | |
| NM_015100.3:c.2814A>G | NP_055915.2:p.Glu938= | |
| NM_145796.3:c.2529A>G | NP_665739.3:p.Glu843= | |
| NM_207171.2:c.2655A>G | NP_997054.1:p.Glu885= | |
| XM_005244999.1:c.2814A>G | XP_005245056.1:p.Glu938= | |
| XM_005245000.3:c.2814A>G | XP_005245057.1:p.Glu938= | |
| XM_005245001.1:c.2814A>G | XP_005245058.1:p.Glu938= | |
| XM_005245005.1:c.2655A>G | XP_005245062.1:p.Glu885= | |
| XM_005245006.3:c.2655A>G | XP_005245063.1:p.Glu885= | |
| XM_011509330.1:c.2706A>G | XP_011507632.1:p.Glu902= | |
| XM_011509331.1:c.2457A>G | XP_011507633.1:p.Glu819= | |
| XM_005244999.3:c.2814A>G | XP_005245056.1:p.Glu938= | |
| XM_005245000.4:c.2814A>G | XP_005245057.1:p.Glu938= | |
| XM_005245001.2:c.2814A>G | XP_005245058.1:p.Glu938= | |
| XM_005245005.2:c.2655A>G | XP_005245062.1:p.Glu885= | |
| XM_005245006.5:c.2655A>G | XP_005245063.1:p.Glu885= | |
| XM_017000744.1:c.2835A>G | XP_016856233.1:p.Glu945= | |
| XM_017000745.2:c.2787A>G | XP_016856234.1:p.Glu929= | |
| XM_017000746.1:c.2787A>G | XP_016856235.1:p.Glu929= | |
| XM_017000748.1:c.2655A>G | XP_016856237.1:p.Glu885= | |
| XM_017000749.1:c.2655A>G | XP_016856238.1:p.Glu885= | |
| XM_024454305.1:c.2688A>G | XP_024310073.1:p.Glu896= | |
| XM_024454306.1:c.1614A>G | XP_024310074.1:p.Glu538= | |
| XR_002959801.1:n.2669A>G | ||
| NM_015100.4:c.2814A>G MANE Select | NP_055915.2:p.Glu938= | |
| NM_001194937.2:c.2787A>G | NP_001181866.1:p.Glu929= | |
| NM_001194938.2:c.2628A>G | NP_001181867.1:p.Glu876= | |
| NM_145796.4:c.2529A>G | NP_665739.3:p.Glu843= |