Linked Data
ClinVar Variation Id:
257180
dbSNP Id:
rs12768894
ExAC:
10:14974905 T / C
gnomAD v2:
10-14974905-T-C
gnomAD v3:
10-14932906-T-C
gnomAD v4:
10-14932906-T-C
ERepo:
CA5416704/MONDO:0011225/116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14932906T>C , CM000672.2:g.14932906T>C | GRCh38 |
| NC_000010.10:g.14974905T>C , CM000672.1:g.14974905T>C | GRCh37 |
| NC_000010.9:g.15014911T>C | NCBI36 |
| NG_007276.1:g.26190A>G , LRG_54:g.26190A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378241.6:c.*775A>G | ENSP00000367487.3:n.*775A>G | |
| ENST00000456122.2:c.*914A>G | ENSP00000413180.3:n.*914A>G | |
| ENST00000489161.2:c.*506A>G | ENSP00000513000.2:n.*506A>G | |
| ENST00000492201.6:c.728A>G | ENSP00000512999.1:p.His243Arg | |
| ENST00000697047.1:c.728A>G | ENSP00000513066.1:p.His243Arg | |
| ENST00000697070.1:c.728A>G | ENSP00000513085.1:p.His243Arg | |
| ENST00000697071.1:c.*648A>G | ENSP00000513086.1:n.*648A>G | |
| ENST00000697072.1:c.728A>G | ENSP00000513087.1:p.His243Arg | |
| ENST00000697073.1:c.*506A>G | ENSP00000513088.2:n.*506A>G | |
| ENST00000697074.1:c.*506A>G | ENSP00000513089.2:n.*506A>G | |
| ENST00000697075.1:c.728A>G | ENSP00000513090.1:p.His243Arg | |
| ENST00000697076.1:c.728A>G | ENSP00000513091.1:p.His243Arg | |
| ENST00000697077.1:c.*439A>G | ENSP00000513092.1:n.*439A>G | |
| ENST00000697078.1:c.*435A>G | ENSP00000513093.1:n.*435A>G | |
| ENST00000697079.1:n.432A>G | ||
| ENST00000697080.1:c.*592A>G | ENSP00000513094.1:n.*592A>G | |
| ENST00000697081.1:c.*345A>G | ENSP00000513095.1:n.*345A>G | |
| ENST00000697082.1:c.*864+1474A>G | ENSP00000513096.1:n.*864+1474A>G | |
| ENST00000697083.1:c.*588A>G | ENSP00000513097.1:n.*588A>G | |
| ENST00000697084.1:c.728A>G | ENSP00000513098.1:p.His243Arg | |
| ENST00000697085.1:c.*495A>G | ENSP00000513099.1:n.*495A>G | |
| ENST00000697086.1:n.3165A>G | ||
| ENST00000697087.1:c.*648A>G | ENSP00000513100.1:n.*648A>G | |
| ENST00000697088.1:c.*345A>G | ENSP00000513101.1:n.*345A>G | |
| ENST00000697089.1:c.*648A>G | ENSP00000513102.1:n.*648A>G | |
| ENST00000378278.7:c.728A>G MANE Select | ENSP00000367527.2:p.His243Arg | |
| ENST00000357717.6:c.383A>G | ENSP00000350349.2:p.His128Arg | |
| ENST00000378246.6:c.383A>G | ENSP00000367492.2:p.His128Arg | |
| ENST00000378249.5:c.383A>G | ENSP00000367496.1:p.His128Arg | |
| ENST00000378254.5:c.368A>G | ENSP00000367502.1:p.His123Arg | |
| ENST00000378255.5:c.368A>G | ENSP00000367503.1:p.His123Arg | |
| ENST00000378258.5:c.368A>G | ENSP00000367506.1:p.His123Arg | |
| ENST00000378278.6:c.728A>G | ENSP00000367527.2:p.His243Arg | |
| ENST00000378289.8:c.728A>G | ENSP00000367538.4:p.His243Arg | |
| ENST00000396817.6:c.368A>G | ENSP00000380030.2:p.His123Arg | |
| ENST00000418843.5:c.290A>G | ENSP00000391428.1:p.His97Arg | |
| NM_001033855.2:c.728A>G | NP_001029027.1:p.His243Arg | |
| NM_001033857.2:c.368A>G | NP_001029029.1:p.His123Arg | |
| NM_001033858.2:c.368A>G | NP_001029030.1:p.His123Arg | |
| NM_001289076.1:c.383A>G | NP_001276005.1:p.His128Arg | |
| NM_001289077.1:c.368A>G | NP_001276006.1:p.His123Arg | |
| NM_001289078.1:c.383A>G | NP_001276007.1:p.His128Arg | |
| NM_001289079.1:c.368A>G | NP_001276008.1:p.His123Arg | |
| NM_022487.3:c.383A>G | NP_071932.2:p.His128Arg | |
| NR_110297.1:n.1362A>G | ||
| XM_006717491.2:c.383A>G | XP_006717554.1:p.His128Arg | |
| XM_011519616.1:c.383A>G | XP_011517918.1:p.His128Arg | |
| XM_011519617.1:c.383A>G | XP_011517919.1:p.His128Arg | |
| XM_011519618.1:c.383A>G | XP_011517920.1:p.His128Arg | |
| XM_011519619.1:c.368A>G | XP_011517921.1:p.His123Arg | |
| XM_011519620.1:c.728A>G | XP_011517922.1:p.His243Arg | |
| XM_011519621.1:c.728A>G | XP_011517923.1:p.His243Arg | |
| XR_242702.2:n.825A>G | ||
| XR_930514.1:n.825A>G | ||
| XR_930515.1:n.825A>G | ||
| NM_001350965.1:c.728A>G | NP_001337894.1:p.His243Arg | |
| NM_001350966.1:c.383A>G | NP_001337895.1:p.His128Arg | |
| NM_001350967.1:c.368A>G | NP_001337896.1:p.His123Arg | |
| NR_146960.1:n.1150A>G | ||
| NR_146961.1:n.1179A>G | ||
| NR_146962.1:n.1150A>G | ||
| XM_006717491.4:c.383A>G | XP_006717554.1:p.His128Arg | |
| XM_011519620.3:c.728A>G | XP_011517922.1:p.His243Arg | |
| XM_011519621.2:c.728A>G | XP_011517923.1:p.His243Arg | |
| XM_017016557.1:c.383A>G | XP_016872046.1:p.His128Arg | |
| XM_017016558.1:c.368A>G | XP_016872047.1:p.His123Arg | |
| XM_024448134.1:c.368A>G | XP_024303902.1:p.His123Arg | |
| XM_024448135.1:c.383A>G | XP_024303903.1:p.His128Arg | |
| XR_001747185.2:n.1072A>G | ||
| XR_001747187.1:n.708A>G | ||
| XR_930515.2:n.1072A>G | ||
| NM_001033855.3:c.728A>G MANE Select | NP_001029027.1:p.His243Arg | |
| NM_001033857.3:c.368A>G | NP_001029029.1:p.His123Arg | |
| NM_001033858.3:c.368A>G | NP_001029030.1:p.His123Arg | |
| NM_001289076.2:c.383A>G | NP_001276005.1:p.His128Arg | |
| NM_001289077.2:c.368A>G | NP_001276006.1:p.His123Arg | |
| NM_001289078.2:c.383A>G | NP_001276007.1:p.His128Arg | |
| NM_001289079.2:c.368A>G | NP_001276008.1:p.His123Arg | |
| NM_001350965.2:c.728A>G | NP_001337894.1:p.His243Arg | |
| NM_001350966.2:c.383A>G | NP_001337895.1:p.His128Arg | |
| NM_001350967.2:c.368A>G | NP_001337896.1:p.His123Arg | |
| NM_022487.4:c.383A>G | NP_071932.2:p.His128Arg | |
| NR_110297.2:n.1026A>G | ||
| NR_146961.2:n.843A>G |