Linked Data
ClinVar Variation Id:
471617
dbSNP Id:
rs367679924
ExAC:
8:144998218 C / T
gnomAD v2:
8-144998218-C-T
gnomAD v3:
8-143924050-C-T
gnomAD v4:
8-143924050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143924050C>T , CM000670.2:g.143924050C>T | GRCh38 |
| NC_000008.10:g.144998218C>T , CM000670.1:g.144998218C>T | GRCh37 |
| NC_000008.9:g.145070206C>T | NCBI36 |
| NG_012492.1:g.57696G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6011G>A | ENSP00000437303.2:p.Arg2004His | |
| ENST00000685198.1:c.5930G>A | ENSP00000510528.1:p.Arg1977His | |
| ENST00000687971.1:c.5597G>A | ENSP00000510788.1:p.Arg1866His | |
| ENST00000693060.1:c.5810G>A | ENSP00000510329.1:p.Arg1937His | |
| ENST00000345136.8:c.5879G>A MANE Select | ENSP00000344848.3:p.Arg1960His | |
| ENST00000527303.2:c.4126-1655G>A | ENSP00000433982.2:n.4126-1655G>A | |
| ENST00000322810.8:c.6290G>A | ENSP00000323856.4:p.Arg2097His | |
| ENST00000345136.7:c.5879G>A | ENSP00000344848.3:p.Arg1960His | |
| ENST00000354589.7:c.5879G>A | ENSP00000346602.3:p.Arg1960His | |
| ENST00000354958.6:c.5813G>A | ENSP00000347044.2:p.Arg1938His | |
| ENST00000356346.7:c.5837G>A MANE Plus Clinical | ENSP00000348702.3:p.Arg1946His | |
| ENST00000357649.6:c.5891G>A | ENSP00000350277.2:p.Arg1964His | |
| ENST00000398774.6:c.5783G>A | ENSP00000381756.2:p.Arg1928His | |
| ENST00000436759.6:c.5960G>A | ENSP00000388180.2:p.Arg1987His | |
| ENST00000527096.5:c.5948G>A | ENSP00000434583.1:p.Arg1983His | |
| ENST00000527303.1:c.135-1655G>A | ||
| NM_000445.4:c.5960G>A | NP_000436.2:p.Arg1987His | |
| NM_201378.3:c.5837G>A | NP_958780.1:p.Arg1946His | |
| NM_201379.2:c.5813G>A | NP_958781.1:p.Arg1938His | |
| NM_201380.3:c.6290G>A | NP_958782.1:p.Arg2097His | |
| NM_201381.2:c.5783G>A | NP_958783.1:p.Arg1928His | |
| NM_201382.3:c.5879G>A | NP_958784.1:p.Arg1960His | |
| NM_201383.2:c.5891G>A | NP_958785.1:p.Arg1964His | |
| NM_201384.2:c.5879G>A | NP_958786.1:p.Arg1960His | |
| XM_005250976.2:c.6305G>A | XP_005251033.1:p.Arg2102His | |
| XM_005250978.2:c.5906G>A | XP_005251035.1:p.Arg1969His | |
| XM_005250979.3:c.5894G>A | XP_005251036.1:p.Arg1965His | |
| XM_005250980.3:c.5894G>A | XP_005251037.1:p.Arg1965His | |
| XM_005250981.2:c.5852G>A | XP_005251038.1:p.Arg1951His | |
| XM_005250982.2:c.5828G>A | XP_005251039.1:p.Arg1943His | |
| XM_005250983.2:c.5810G>A | XP_005251040.1:p.Arg1937His | |
| XM_005250984.3:c.5798G>A | XP_005251041.1:p.Arg1933His | |
| XM_006716588.2:c.5975G>A | XP_006716651.1:p.Arg1992His | |
| XM_006716589.2:c.5825G>A | XP_006716652.1:p.Arg1942His | |
| XM_006716590.2:c.5825G>A | XP_006716653.1:p.Arg1942His | |
| XM_011517130.1:c.5894G>A | XP_011515432.1:p.Arg1965His | |
| XM_011517131.1:c.5810G>A | XP_011515433.1:p.Arg1937His | |
| XM_011517132.1:c.4072-1655G>A | XP_011515434.1:n.4072-1655G>A | |
| XM_005250976.4:c.6305G>A | XP_005251033.1:p.Arg2102His | |
| XM_005250978.3:c.5906G>A | XP_005251035.1:p.Arg1969His | |
| XM_005250979.4:c.5894G>A | XP_005251036.1:p.Arg1965His | |
| XM_005250980.4:c.5894G>A | XP_005251037.1:p.Arg1965His | |
| XM_005250981.3:c.5852G>A | XP_005251038.1:p.Arg1951His | |
| XM_005250982.4:c.5828G>A | XP_005251039.1:p.Arg1943His | |
| XM_005250984.5:c.5798G>A | XP_005251041.1:p.Arg1933His | |
| XM_006716588.3:c.5975G>A | XP_006716651.1:p.Arg1992His | |
| XM_006716590.3:c.5825G>A | XP_006716653.1:p.Arg1942His | |
| XM_011517130.2:c.5894G>A | XP_011515432.1:p.Arg1965His | |
| XM_011517131.2:c.5810G>A | XP_011515433.1:p.Arg1937His | |
| XM_011517132.2:c.4072-1655G>A | XP_011515434.1:n.4072-1655G>A | |
| NM_000445.5:c.5960G>A | NP_000436.2:p.Arg1987His | |
| NM_201378.4:c.5837G>A MANE Plus Clinical | NP_958780.1:p.Arg1946His | |
| NM_201379.3:c.5813G>A | NP_958781.1:p.Arg1938His | |
| NM_201380.4:c.6290G>A | NP_958782.1:p.Arg2097His | |
| NM_201381.3:c.5783G>A | NP_958783.1:p.Arg1928His | |
| NM_201382.4:c.5879G>A | NP_958784.1:p.Arg1960His | |
| NM_201383.3:c.5891G>A | NP_958785.1:p.Arg1964His | |
| NM_201384.3:c.5879G>A MANE Select | NP_958786.1:p.Arg1960His |