Linked Data
dbSNP Id:
rs764087333
ExAC:
1:151378521 C / T
gnomAD v2:
1-151378521-C-T
gnomAD v3:
1-151406045-C-T
gnomAD v4:
1-151406045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151406045C>T , CM000663.2:g.151406045C>T | GRCh38 |
| NC_000001.10:g.151378521C>T , CM000663.1:g.151378521C>T | GRCh37 |
| NC_000001.9:g.149645145C>T | NCBI36 |
| NG_046601.1:g.58421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.3038G>A | ENSP00000518163.1:p.Arg1013Gln | |
| ENST00000392723.6:c.2831G>A | ENSP00000376484.1:p.Arg944Gln | |
| ENST00000439756.2:c.2990G>A | ENSP00000390156.2:p.Arg997Gln | |
| ENST00000703168.1:c.3011G>A | ENSP00000515214.1:p.Arg1004Gln | |
| ENST00000271715.7:c.2990G>A MANE Select | ENSP00000271715.2:p.Arg997Gln | |
| ENST00000271715.6:c.2990G>A | ENSP00000271715.2:p.Arg997Gln | |
| ENST00000358476.7:n.3138G>A | ||
| ENST00000368863.6:c.2705G>A | ENSP00000357856.2:p.Arg902Gln | |
| ENST00000392723.5:c.2831G>A | ENSP00000376484.1:p.Arg944Gln | |
| ENST00000409503.5:c.2963G>A | ENSP00000386836.1:p.Arg988Gln | |
| ENST00000491586.5:c.2858G>A | ENSP00000418408.1:p.Arg953Gln | |
| ENST00000531094.5:c.2804G>A | ENSP00000431259.1:p.Arg935Gln | |
| NM_001194937.1:c.2963G>A | NP_001181866.1:p.Arg988Gln | |
| NM_001194938.1:c.2804G>A | NP_001181867.1:p.Arg935Gln | |
| NM_015100.3:c.2990G>A | NP_055915.2:p.Arg997Gln | |
| NM_145796.3:c.2705G>A | NP_665739.3:p.Arg902Gln | |
| NM_207171.2:c.2831G>A | NP_997054.1:p.Arg944Gln | |
| XM_005244999.1:c.2990G>A | XP_005245056.1:p.Arg997Gln | |
| XM_005245000.3:c.2990G>A | XP_005245057.1:p.Arg997Gln | |
| XM_005245001.1:c.2990G>A | XP_005245058.1:p.Arg997Gln | |
| XM_005245005.1:c.2831G>A | XP_005245062.1:p.Arg944Gln | |
| XM_005245006.3:c.2831G>A | XP_005245063.1:p.Arg944Gln | |
| XM_011509330.1:c.2882G>A | XP_011507632.1:p.Arg961Gln | |
| XM_011509331.1:c.2633G>A | XP_011507633.1:p.Arg878Gln | |
| XM_005244999.3:c.2990G>A | XP_005245056.1:p.Arg997Gln | |
| XM_005245000.4:c.2990G>A | XP_005245057.1:p.Arg997Gln | |
| XM_005245001.2:c.2990G>A | XP_005245058.1:p.Arg997Gln | |
| XM_005245005.2:c.2831G>A | XP_005245062.1:p.Arg944Gln | |
| XM_005245006.5:c.2831G>A | XP_005245063.1:p.Arg944Gln | |
| XM_017000744.1:c.3011G>A | XP_016856233.1:p.Arg1004Gln | |
| XM_017000745.2:c.2963G>A | XP_016856234.1:p.Arg988Gln | |
| XM_017000746.1:c.2963G>A | XP_016856235.1:p.Arg988Gln | |
| XM_017000748.1:c.2831G>A | XP_016856237.1:p.Arg944Gln | |
| XM_017000749.1:c.2831G>A | XP_016856238.1:p.Arg944Gln | |
| XM_024454305.1:c.2864G>A | XP_024310073.1:p.Arg955Gln | |
| XM_024454306.1:c.1790G>A | XP_024310074.1:p.Arg597Gln | |
| XR_002959801.1:n.2845G>A | ||
| NM_015100.4:c.2990G>A MANE Select | NP_055915.2:p.Arg997Gln | |
| NM_001194937.2:c.2963G>A | NP_001181866.1:p.Arg988Gln | |
| NM_001194938.2:c.2804G>A | NP_001181867.1:p.Arg935Gln | |
| NM_145796.4:c.2705G>A | NP_665739.3:p.Arg902Gln |