Linked Data
ClinVar Variation Id:
283768
dbSNP Id:
rs200776618
ExAC:
2:50758463 C / T
gnomAD v2:
2-50758463-C-T
gnomAD v3:
2-50531325-C-T
gnomAD v4:
2-50531325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50531325C>T , CM000664.2:g.50531325C>T | GRCh38 |
| NC_000002.11:g.50758463C>T , CM000664.1:g.50758463C>T | GRCh37 |
| NC_000002.10:g.50611967C>T | NCBI36 |
| NG_011878.1:g.506212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401669.7:c.2249G>A MANE Select | ENSP00000385017.2:p.Arg750His | |
| ENST00000636298.1:n.1148G>A | ||
| ENST00000331040.9:c.1430G>A | ENSP00000489573.1:p.Arg477His | |
| ENST00000401669.6:c.2249G>A | ENSP00000385017.2:p.Arg750His | |
| ENST00000402717.6:c.1394G>A | ENSP00000385434.4:p.Arg465His | |
| ENST00000404971.5:c.2369G>A | ENSP00000385142.1:p.Arg790His | |
| ENST00000405472.7:c.2213G>A | ENSP00000434015.2:p.Arg738His | |
| ENST00000406316.6:c.2249G>A | ENSP00000384311.2:p.Arg750His | |
| ENST00000406859.7:c.1439G>A | ENSP00000385681.4:p.Arg480His | |
| ENST00000495871.2:c.470+21262G>A | ||
| ENST00000625672.2:c.2225G>A | ENSP00000485887.1:p.Arg742His | |
| ENST00000630543.2:c.2225G>A | ENSP00000486879.1:p.Arg742His | |
| NM_001135659.1:c.2369G>A | NP_001129131.1:p.Arg790His | |
| NM_004801.4:c.2249G>A | NP_004792.1:p.Arg750His | |
| XM_005264642.2:c.2270G>A | XP_005264699.1:p.Arg757His | |
| XM_005264643.2:c.2225G>A | XP_005264700.1:p.Arg742His | |
| XM_006712137.2:c.2270G>A | XP_006712200.1:p.Arg757His | |
| XM_006712140.2:c.2270G>A | XP_006712203.1:p.Arg757His | |
| XM_006712141.2:c.2270G>A | XP_006712204.1:p.Arg757His | |
| XM_011533167.1:c.2270G>A | XP_011531469.1:p.Arg757His | |
| XM_011533168.1:c.2267G>A | XP_011531470.1:p.Arg756His | |
| XM_011533169.1:c.2258G>A | XP_011531471.1:p.Arg753His | |
| XM_011533170.1:c.2252G>A | XP_011531472.1:p.Arg751His | |
| XM_011533171.1:c.2249G>A | XP_011531473.1:p.Arg750His | |
| XM_011533172.1:c.2270G>A | XP_011531474.1:p.Arg757His | |
| XM_011533173.1:c.2240G>A | XP_011531475.1:p.Arg747His | |
| XM_011533174.1:c.2225G>A | XP_011531476.1:p.Arg742His | |
| XM_011533175.1:c.2213G>A | XP_011531477.1:p.Arg738His | |
| XM_011533176.1:c.2210G>A | XP_011531478.1:p.Arg737His | |
| XM_011533177.1:c.2270G>A | XP_011531479.1:p.Arg757His | |
| XM_011533178.1:c.2207G>A | XP_011531480.1:p.Arg736His | |
| XM_011533179.1:c.2225G>A | XP_011531481.1:p.Arg742His | |
| XM_011533180.1:c.2270G>A | XP_011531482.1:p.Arg757His | |
| XM_011533181.1:c.1475G>A | XP_011531483.1:p.Arg492His | |
| XM_011533182.1:c.1430G>A | XP_011531484.1:p.Arg477His | |
| XM_011533183.1:c.1430G>A | XP_011531485.1:p.Arg477His | |
| XM_011533184.1:c.1310G>A | XP_011531486.1:p.Arg437His | |
| NM_001135659.2:c.2369G>A | NP_001129131.1:p.Arg790His | |
| NM_001330077.1:c.2225G>A | NP_001317006.1:p.Arg742His | |
| NM_001330078.1:c.2249G>A | NP_001317007.1:p.Arg750His | |
| NM_001330082.1:c.2225G>A | NP_001317011.1:p.Arg742His | |
| NM_001330083.1:c.2210G>A | NP_001317012.1:p.Arg737His | |
| NM_001330084.1:c.2210G>A | NP_001317013.1:p.Arg737His | |
| NM_001330085.1:c.2249G>A | NP_001317014.1:p.Arg750His | |
| NM_001330086.1:c.2249G>A | NP_001317015.1:p.Arg750His | |
| NM_001330087.1:c.2165G>A | NP_001317016.1:p.Arg722His | |
| NM_001330088.1:c.2195G>A | NP_001317017.1:p.Arg732His | |
| NM_001330093.1:c.2246G>A | NP_001317022.1:p.Arg749His | |
| NM_001330094.1:c.2237G>A | NP_001317023.1:p.Arg746His | |
| NM_001330095.1:c.2225G>A | NP_001317024.1:p.Arg742His | |
| NM_001330096.1:c.2165G>A | NP_001317025.1:p.Arg722His | |
| NM_004801.5:c.2249G>A | NP_004792.1:p.Arg750His | |
| XM_005264642.4:c.2270G>A | XP_005264699.1:p.Arg757His | |
| XM_006712137.4:c.2270G>A | XP_006712200.1:p.Arg757His | |
| XM_006712140.4:c.2270G>A | XP_006712203.2:p.Arg757His | |
| XM_011533167.3:c.2270G>A | XP_011531469.1:p.Arg757His | |
| XM_011533172.3:c.2270G>A | XP_011531474.1:p.Arg757His | |
| XM_011533175.3:c.2213G>A | XP_011531477.1:p.Arg738His | |
| XM_011533177.3:c.2270G>A | XP_011531479.1:p.Arg757His | |
| XM_011533178.3:c.2207G>A | XP_011531480.1:p.Arg736His | |
| XM_011533180.3:c.2270G>A | XP_011531482.1:p.Arg757His | |
| XM_011533183.2:c.1430G>A | XP_011531485.1:p.Arg477His | |
| XM_017005303.2:c.2270G>A | XP_016860792.1:p.Arg757His | |
| XM_017005304.2:c.2267G>A | XP_016860793.1:p.Arg756His | |
| XM_017005305.2:c.2270G>A | XP_016860794.1:p.Arg757His | |
| XM_017005306.2:c.2258G>A | XP_016860795.1:p.Arg753His | |
| XM_017005307.2:c.2252G>A | XP_016860796.1:p.Arg751His | |
| XM_017005308.2:c.2249G>A | XP_016860797.1:p.Arg750His | |
| XM_017005309.2:c.2270G>A | XP_016860798.1:p.Arg757His | |
| XM_017005310.2:c.2240G>A | XP_016860799.1:p.Arg747His | |
| XM_017005311.2:c.2225G>A | XP_016860800.1:p.Arg742His | |
| XM_017005314.2:c.2210G>A | XP_016860803.1:p.Arg737His | |
| XM_017005315.2:c.2270G>A | XP_016860804.1:p.Arg757His | |
| XM_017005316.2:c.2207G>A | XP_016860805.1:p.Arg736His | |
| XM_017005318.2:c.2225G>A | XP_016860807.1:p.Arg742His | |
| XM_017005320.2:c.2249G>A | XP_016860809.1:p.Arg750His | |
| XM_017005321.2:c.2270G>A | XP_016860810.1:p.Arg757His | |
| XM_017005322.2:c.2270G>A | XP_016860811.1:p.Arg757His | |
| XM_017005324.2:c.2270G>A | XP_016860813.1:p.Arg757His | |
| XM_017005325.2:c.2270G>A | XP_016860814.1:p.Arg757His | |
| XM_017005326.2:c.2231G>A | XP_016860815.1:p.Arg744His | |
| XM_017005327.2:c.2225G>A | XP_016860816.1:p.Arg742His | |
| XM_017005329.2:c.2270G>A | XP_016860818.1:p.Arg757His | |
| XM_017005334.2:c.1310G>A | XP_016860823.1:p.Arg437His | |
| NM_001330078.2:c.2249G>A MANE Select | NP_001317007.1:p.Arg750His | |
| NM_001135659.3:c.2369G>A | NP_001129131.1:p.Arg790His | |
| NM_001330077.2:c.2225G>A | NP_001317006.1:p.Arg742His | |
| NM_001330082.2:c.2225G>A | NP_001317011.1:p.Arg742His | |
| NM_001330083.2:c.2210G>A | NP_001317012.1:p.Arg737His | |
| NM_001330084.2:c.2210G>A | NP_001317013.1:p.Arg737His | |
| NM_001330085.2:c.2249G>A | NP_001317014.1:p.Arg750His | |
| NM_001330086.2:c.2249G>A | NP_001317015.1:p.Arg750His | |
| NM_001330087.2:c.2165G>A | NP_001317016.1:p.Arg722His | |
| NM_001330088.2:c.2195G>A | NP_001317017.1:p.Arg732His | |
| NM_001330093.2:c.2246G>A | NP_001317022.1:p.Arg749His | |
| NM_001330094.2:c.2237G>A | NP_001317023.1:p.Arg746His | |
| NM_001330095.2:c.2225G>A | NP_001317024.1:p.Arg742His | |
| NM_001330096.2:c.2165G>A | NP_001317025.1:p.Arg722His | |
| NM_004801.6:c.2249G>A | NP_004792.1:p.Arg750His |