Linked Data
ClinVar Variation Id:
281264
dbSNP Id:
rs201928401
ExAC:
8:144997492 T / C
gnomAD v2:
8-144997492-T-C
gnomAD v3:
8-143923324-T-C
gnomAD v4:
8-143923324-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923324T>C , CM000670.2:g.143923324T>C | GRCh38 |
| NC_000008.10:g.144997492T>C , CM000670.1:g.144997492T>C | GRCh37 |
| NC_000008.9:g.145069480T>C | NCBI36 |
| NG_012492.1:g.58422A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6737A>G | ENSP00000437303.2:p.Lys2246Arg | |
| ENST00000685198.1:c.6656A>G | ENSP00000510528.1:p.Lys2219Arg | |
| ENST00000687971.1:c.6323A>G | ENSP00000510788.1:p.Lys2108Arg | |
| ENST00000693060.1:c.6536A>G | ENSP00000510329.1:p.Lys2179Arg | |
| ENST00000345136.8:c.6605A>G MANE Select | ENSP00000344848.3:p.Lys2202Arg | |
| ENST00000527303.2:c.4126-929A>G | ENSP00000433982.2:n.4126-929A>G | |
| ENST00000322810.8:c.7016A>G | ENSP00000323856.4:p.Lys2339Arg | |
| ENST00000345136.7:c.6605A>G | ENSP00000344848.3:p.Lys2202Arg | |
| ENST00000354589.7:c.6605A>G | ENSP00000346602.3:p.Lys2202Arg | |
| ENST00000354958.6:c.6539A>G | ENSP00000347044.2:p.Lys2180Arg | |
| ENST00000356346.7:c.6563A>G MANE Plus Clinical | ENSP00000348702.3:p.Lys2188Arg | |
| ENST00000357649.6:c.6617A>G | ENSP00000350277.2:p.Lys2206Arg | |
| ENST00000398774.6:c.6509A>G | ENSP00000381756.2:p.Lys2170Arg | |
| ENST00000436759.6:c.6686A>G | ENSP00000388180.2:p.Lys2229Arg | |
| ENST00000527096.5:c.6674A>G | ENSP00000434583.1:p.Lys2225Arg | |
| ENST00000527303.1:c.135-929A>G | ||
| NM_000445.4:c.6686A>G | NP_000436.2:p.Lys2229Arg | |
| NM_201378.3:c.6563A>G | NP_958780.1:p.Lys2188Arg | |
| NM_201379.2:c.6539A>G | NP_958781.1:p.Lys2180Arg | |
| NM_201380.3:c.7016A>G | NP_958782.1:p.Lys2339Arg | |
| NM_201381.2:c.6509A>G | NP_958783.1:p.Lys2170Arg | |
| NM_201382.3:c.6605A>G | NP_958784.1:p.Lys2202Arg | |
| NM_201383.2:c.6617A>G | NP_958785.1:p.Lys2206Arg | |
| NM_201384.2:c.6605A>G | NP_958786.1:p.Lys2202Arg | |
| XM_005250976.2:c.7031A>G | XP_005251033.1:p.Lys2344Arg | |
| XM_005250978.2:c.6632A>G | XP_005251035.1:p.Lys2211Arg | |
| XM_005250979.3:c.6620A>G | XP_005251036.1:p.Lys2207Arg | |
| XM_005250980.3:c.6620A>G | XP_005251037.1:p.Lys2207Arg | |
| XM_005250981.2:c.6578A>G | XP_005251038.1:p.Lys2193Arg | |
| XM_005250982.2:c.6554A>G | XP_005251039.1:p.Lys2185Arg | |
| XM_005250983.2:c.6536A>G | XP_005251040.1:p.Lys2179Arg | |
| XM_005250984.3:c.6524A>G | XP_005251041.1:p.Lys2175Arg | |
| XM_006716588.2:c.6701A>G | XP_006716651.1:p.Lys2234Arg | |
| XM_006716589.2:c.6551A>G | XP_006716652.1:p.Lys2184Arg | |
| XM_006716590.2:c.6551A>G | XP_006716653.1:p.Lys2184Arg | |
| XM_011517130.1:c.6620A>G | XP_011515432.1:p.Lys2207Arg | |
| XM_011517131.1:c.6536A>G | XP_011515433.1:p.Lys2179Arg | |
| XM_011517132.1:c.4072-929A>G | XP_011515434.1:n.4072-929A>G | |
| XM_005250976.4:c.7031A>G | XP_005251033.1:p.Lys2344Arg | |
| XM_005250978.3:c.6632A>G | XP_005251035.1:p.Lys2211Arg | |
| XM_005250979.4:c.6620A>G | XP_005251036.1:p.Lys2207Arg | |
| XM_005250980.4:c.6620A>G | XP_005251037.1:p.Lys2207Arg | |
| XM_005250981.3:c.6578A>G | XP_005251038.1:p.Lys2193Arg | |
| XM_005250982.4:c.6554A>G | XP_005251039.1:p.Lys2185Arg | |
| XM_005250984.5:c.6524A>G | XP_005251041.1:p.Lys2175Arg | |
| XM_006716588.3:c.6701A>G | XP_006716651.1:p.Lys2234Arg | |
| XM_006716590.3:c.6551A>G | XP_006716653.1:p.Lys2184Arg | |
| XM_011517130.2:c.6620A>G | XP_011515432.1:p.Lys2207Arg | |
| XM_011517131.2:c.6536A>G | XP_011515433.1:p.Lys2179Arg | |
| XM_011517132.2:c.4072-929A>G | XP_011515434.1:n.4072-929A>G | |
| NM_000445.5:c.6686A>G | NP_000436.2:p.Lys2229Arg | |
| NM_201378.4:c.6563A>G MANE Plus Clinical | NP_958780.1:p.Lys2188Arg | |
| NM_201379.3:c.6539A>G | NP_958781.1:p.Lys2180Arg | |
| NM_201380.4:c.7016A>G | NP_958782.1:p.Lys2339Arg | |
| NM_201381.3:c.6509A>G | NP_958783.1:p.Lys2170Arg | |
| NM_201382.4:c.6605A>G | NP_958784.1:p.Lys2202Arg | |
| NM_201383.3:c.6617A>G | NP_958785.1:p.Lys2206Arg | |
| NM_201384.3:c.6605A>G MANE Select | NP_958786.1:p.Lys2202Arg |