Linked Data
ClinVar Variation Id:
281280
dbSNP Id:
rs201655861
ExAC:
8:144995329 T / C
gnomAD v2:
8-144995329-T-C
gnomAD v3:
8-143921161-T-C
gnomAD v4:
8-143921161-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143921161T>C , CM000670.2:g.143921161T>C | GRCh38 |
| NC_000008.10:g.144995329T>C , CM000670.1:g.144995329T>C | GRCh37 |
| NC_000008.9:g.145067317T>C | NCBI36 |
| NG_012492.1:g.60585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.8792A>G | ENSP00000437303.2:p.Lys2931Arg | |
| ENST00000685198.1:c.8711A>G | ENSP00000510528.1:p.Lys2904Arg | |
| ENST00000687971.1:c.8378A>G | ENSP00000510788.1:p.Lys2793Arg | |
| ENST00000693060.1:c.8591A>G | ENSP00000510329.1:p.Lys2864Arg | |
| ENST00000345136.8:c.8660A>G MANE Select | ENSP00000344848.3:p.Lys2887Arg | |
| ENST00000527303.2:c.5360A>G | ENSP00000433982.2:p.Lys1787Arg | |
| ENST00000322810.8:c.9071A>G | ENSP00000323856.4:p.Lys3024Arg | |
| ENST00000345136.7:c.8660A>G | ENSP00000344848.3:p.Lys2887Arg | |
| ENST00000354589.7:c.8660A>G | ENSP00000346602.3:p.Lys2887Arg | |
| ENST00000354958.6:c.8594A>G | ENSP00000347044.2:p.Lys2865Arg | |
| ENST00000356346.7:c.8618A>G MANE Plus Clinical | ENSP00000348702.3:p.Lys2873Arg | |
| ENST00000357649.6:c.8672A>G | ENSP00000350277.2:p.Lys2891Arg | |
| ENST00000398774.6:c.8564A>G | ENSP00000381756.2:p.Lys2855Arg | |
| ENST00000436759.6:c.8741A>G | ENSP00000388180.2:p.Lys2914Arg | |
| ENST00000527096.5:c.8729A>G | ENSP00000434583.1:p.Lys2910Arg | |
| NM_000445.4:c.8741A>G | NP_000436.2:p.Lys2914Arg | |
| NM_201378.3:c.8618A>G | NP_958780.1:p.Lys2873Arg | |
| NM_201379.2:c.8594A>G | NP_958781.1:p.Lys2865Arg | |
| NM_201380.3:c.9071A>G | NP_958782.1:p.Lys3024Arg | |
| NM_201381.2:c.8564A>G | NP_958783.1:p.Lys2855Arg | |
| NM_201382.3:c.8660A>G | NP_958784.1:p.Lys2887Arg | |
| NM_201383.2:c.8672A>G | NP_958785.1:p.Lys2891Arg | |
| NM_201384.2:c.8660A>G | NP_958786.1:p.Lys2887Arg | |
| XM_005250976.2:c.9086A>G | XP_005251033.1:p.Lys3029Arg | |
| XM_005250978.2:c.8687A>G | XP_005251035.1:p.Lys2896Arg | |
| XM_005250979.3:c.8675A>G | XP_005251036.1:p.Lys2892Arg | |
| XM_005250980.3:c.8675A>G | XP_005251037.1:p.Lys2892Arg | |
| XM_005250981.2:c.8633A>G | XP_005251038.1:p.Lys2878Arg | |
| XM_005250982.2:c.8609A>G | XP_005251039.1:p.Lys2870Arg | |
| XM_005250983.2:c.8591A>G | XP_005251040.1:p.Lys2864Arg | |
| XM_005250984.3:c.8579A>G | XP_005251041.1:p.Lys2860Arg | |
| XM_006716588.2:c.8756A>G | XP_006716651.1:p.Lys2919Arg | |
| XM_006716589.2:c.8606A>G | XP_006716652.1:p.Lys2869Arg | |
| XM_006716590.2:c.8606A>G | XP_006716653.1:p.Lys2869Arg | |
| XM_011517130.1:c.8675A>G | XP_011515432.1:p.Lys2892Arg | |
| XM_011517131.1:c.8591A>G | XP_011515433.1:p.Lys2864Arg | |
| XM_011517132.1:c.5306A>G | XP_011515434.1:p.Lys1769Arg | |
| XM_005250976.4:c.9086A>G | XP_005251033.1:p.Lys3029Arg | |
| XM_005250978.3:c.8687A>G | XP_005251035.1:p.Lys2896Arg | |
| XM_005250979.4:c.8675A>G | XP_005251036.1:p.Lys2892Arg | |
| XM_005250980.4:c.8675A>G | XP_005251037.1:p.Lys2892Arg | |
| XM_005250981.3:c.8633A>G | XP_005251038.1:p.Lys2878Arg | |
| XM_005250982.4:c.8609A>G | XP_005251039.1:p.Lys2870Arg | |
| XM_005250984.5:c.8579A>G | XP_005251041.1:p.Lys2860Arg | |
| XM_006716588.3:c.8756A>G | XP_006716651.1:p.Lys2919Arg | |
| XM_006716590.3:c.8606A>G | XP_006716653.1:p.Lys2869Arg | |
| XM_011517130.2:c.8675A>G | XP_011515432.1:p.Lys2892Arg | |
| XM_011517131.2:c.8591A>G | XP_011515433.1:p.Lys2864Arg | |
| XM_011517132.2:c.5306A>G | XP_011515434.1:p.Lys1769Arg | |
| NM_000445.5:c.8741A>G | NP_000436.2:p.Lys2914Arg | |
| NM_201378.4:c.8618A>G MANE Plus Clinical | NP_958780.1:p.Lys2873Arg | |
| NM_201379.3:c.8594A>G | NP_958781.1:p.Lys2865Arg | |
| NM_201380.4:c.9071A>G | NP_958782.1:p.Lys3024Arg | |
| NM_201381.3:c.8564A>G | NP_958783.1:p.Lys2855Arg | |
| NM_201382.4:c.8660A>G | NP_958784.1:p.Lys2887Arg | |
| NM_201383.3:c.8672A>G | NP_958785.1:p.Lys2891Arg | |
| NM_201384.3:c.8660A>G MANE Select | NP_958786.1:p.Lys2887Arg |