Linked Data
ClinVar Variation Id:
2060247
ClinVar RCV Id:
RCV002957622
dbSNP Id:
rs780701935
ExAC:
1:11856405 T / C
gnomAD v2:
1-11856405-T-C
gnomAD v3:
1-11796348-T-C
gnomAD v4:
1-11796348-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796348T>C , CM000663.2:g.11796348T>C | GRCh38 |
| NC_000001.10:g.11856405T>C , CM000663.1:g.11856405T>C | GRCh37 |
| NC_000001.9:g.11778992T>C | NCBI36 |
| NG_013351.1:g.14756A>G , LRG_726:g.14756A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.638A>G | ENSP00000365669.3:p.His213Arg | |
| ENST00000376585.6:c.761A>G | ENSP00000365770.1:p.His254Arg | |
| ENST00000376590.9:c.638A>G MANE Select | ENSP00000365775.3:p.His213Arg | |
| ENST00000376592.6:c.638A>G | ENSP00000365777.1:p.His213Arg | |
| ENST00000423400.7:c.758A>G | ENSP00000398908.3:p.His253Arg | |
| ENST00000641407.1:c.638A>G | ENSP00000493098.1:p.His213Arg | |
| ENST00000641446.1:c.638A>G | ENSP00000493262.1:p.His213Arg | |
| ENST00000641721.1:n.644-1000A>G | ||
| ENST00000641747.1:c.*150A>G | ENSP00000493116.1:n.*150A>G | |
| ENST00000641759.1:n.773A>G | ||
| ENST00000641805.1:n.921A>G | ||
| ENST00000641820.1:c.-98A>G | ENSP00000492937.1:n.-98A>G | |
| ENST00000376583.7:c.761A>G | ENSP00000365767.3:p.His254Arg | |
| ENST00000376585.5:c.761A>G | ENSP00000365770.1:p.His254Arg | |
| ENST00000376590.7:c.638A>G | ENSP00000365775.3:p.His213Arg | |
| ENST00000376592.5:c.638A>G | ENSP00000365777.1:p.His213Arg | |
| NM_005957.4:c.638A>G , LRG_726t1:c.638A>G | NP_005948.3:p.His213Arg | |
| XM_005263458.2:c.761A>G | XP_005263515.1:p.His254Arg | |
| XM_005263460.3:c.638A>G | XP_005263517.1:p.His213Arg | |
| XM_005263461.3:c.638A>G | XP_005263518.1:p.His213Arg | |
| XM_005263462.3:c.638A>G | XP_005263519.1:p.His213Arg | |
| XM_005263463.2:c.392A>G | XP_005263520.1:p.His131Arg | |
| XM_011541495.1:c.758A>G | XP_011539797.1:p.His253Arg | |
| XM_011541496.1:c.761A>G | XP_011539798.1:p.His254Arg | |
| NM_001330358.1:c.761A>G | NP_001317287.1:p.His254Arg | |
| XM_005263460.5:c.638A>G | XP_005263517.1:p.His213Arg | |
| XM_005263462.4:c.638A>G | XP_005263519.1:p.His213Arg | |
| XM_005263463.4:c.392A>G | XP_005263520.1:p.His131Arg | |
| XM_011541495.3:c.758A>G | XP_011539797.1:p.His253Arg | |
| XM_011541496.3:c.761A>G | XP_011539798.1:p.His254Arg | |
| XM_017001328.2:c.761A>G | XP_016856817.1:p.His254Arg | |
| XM_024447198.1:c.392A>G | XP_024302966.1:p.His131Arg | |
| XR_002956640.1:n.1505A>G | ||
| NM_005957.5:c.638A>G MANE Select | NP_005948.3:p.His213Arg | |
| NM_001330358.2:c.761A>G | NP_001317287.1:p.His254Arg |