Linked Data
ClinVar Variation Id:
388599
dbSNP Id:
rs782604399
ExAC:
8:145010081 T / C
gnomAD v2:
8-145010081-T-C
gnomAD v4:
8-143935913-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143935913T>C , CM000670.2:g.143935913T>C | GRCh38 |
| NC_000008.10:g.145010081T>C , CM000670.1:g.145010081T>C | GRCh37 |
| NC_000008.9:g.145082069T>C | NCBI36 |
| NG_012492.1:g.45833A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.669A>G | ENSP00000437303.2:p.Arg223= | |
| ENST00000685198.1:c.588A>G | ENSP00000510528.1:p.Arg196= | |
| ENST00000687971.1:c.255A>G | ENSP00000510788.1:p.Arg85= | |
| ENST00000693060.1:c.468A>G | ENSP00000510329.1:p.Arg156= | |
| ENST00000345136.8:c.537A>G MANE Select | ENSP00000344848.3:p.Arg179= | |
| ENST00000527303.2:c.618A>G | ENSP00000433982.2:p.Arg206= | |
| ENST00000322810.8:c.948A>G | ENSP00000323856.4:p.Arg316= | |
| ENST00000345136.7:c.537A>G | ENSP00000344848.3:p.Arg179= | |
| ENST00000354589.7:c.537A>G | ENSP00000346602.3:p.Arg179= | |
| ENST00000354958.6:c.471A>G | ENSP00000347044.2:p.Arg157= | |
| ENST00000356346.7:c.495A>G MANE Plus Clinical | ENSP00000348702.3:p.Arg165= | |
| ENST00000357649.6:c.549A>G | ENSP00000350277.2:p.Arg183= | |
| ENST00000398774.6:c.441A>G | ENSP00000381756.2:p.Arg147= | |
| ENST00000436759.6:c.618A>G | ENSP00000388180.2:p.Arg206= | |
| ENST00000526416.5:c.468A>G | ENSP00000433557.1:p.Arg156= | |
| ENST00000527096.5:c.618A>G | ENSP00000434583.1:p.Arg206= | |
| ENST00000528025.5:c.669A>G | ENSP00000437303.1:p.Arg223= | |
| NM_000445.4:c.618A>G | NP_000436.2:p.Arg206= | |
| NM_201378.3:c.495A>G | NP_958780.1:p.Arg165= | |
| NM_201379.2:c.471A>G | NP_958781.1:p.Arg157= | |
| NM_201380.3:c.948A>G | NP_958782.1:p.Arg316= | |
| NM_201381.2:c.441A>G | NP_958783.1:p.Arg147= | |
| NM_201382.3:c.537A>G | NP_958784.1:p.Arg179= | |
| NM_201383.2:c.549A>G | NP_958785.1:p.Arg183= | |
| NM_201384.2:c.537A>G | NP_958786.1:p.Arg179= | |
| XM_005250976.2:c.963A>G | XP_005251033.1:p.Arg321= | |
| XM_005250978.2:c.564A>G | XP_005251035.1:p.Arg188= | |
| XM_005250979.3:c.552A>G | XP_005251036.1:p.Arg184= | |
| XM_005250980.3:c.552A>G | XP_005251037.1:p.Arg184= | |
| XM_005250981.2:c.510A>G | XP_005251038.1:p.Arg170= | |
| XM_005250982.2:c.486A>G | XP_005251039.1:p.Arg162= | |
| XM_005250983.2:c.468A>G | XP_005251040.1:p.Arg156= | |
| XM_005250984.3:c.456A>G | XP_005251041.1:p.Arg152= | |
| XM_006716588.2:c.633A>G | XP_006716651.1:p.Arg211= | |
| XM_006716589.2:c.483A>G | XP_006716652.1:p.Arg161= | |
| XM_006716590.2:c.483A>G | XP_006716653.1:p.Arg161= | |
| XM_011517130.1:c.564A>G | XP_011515432.1:p.Arg188= | |
| XM_011517131.1:c.468A>G | XP_011515433.1:p.Arg156= | |
| XM_011517132.1:c.564A>G | XP_011515434.1:p.Arg188= | |
| XM_005250976.4:c.963A>G | XP_005251033.1:p.Arg321= | |
| XM_005250978.3:c.564A>G | XP_005251035.1:p.Arg188= | |
| XM_005250979.4:c.552A>G | XP_005251036.1:p.Arg184= | |
| XM_005250980.4:c.552A>G | XP_005251037.1:p.Arg184= | |
| XM_005250981.3:c.510A>G | XP_005251038.1:p.Arg170= | |
| XM_005250982.4:c.486A>G | XP_005251039.1:p.Arg162= | |
| XM_005250984.5:c.456A>G | XP_005251041.1:p.Arg152= | |
| XM_006716588.3:c.633A>G | XP_006716651.1:p.Arg211= | |
| XM_006716590.3:c.483A>G | XP_006716653.1:p.Arg161= | |
| XM_011517130.2:c.564A>G | XP_011515432.1:p.Arg188= | |
| XM_011517131.2:c.468A>G | XP_011515433.1:p.Arg156= | |
| XM_011517132.2:c.564A>G | XP_011515434.1:p.Arg188= | |
| NM_000445.5:c.618A>G | NP_000436.2:p.Arg206= | |
| NM_201378.4:c.495A>G MANE Plus Clinical | NP_958780.1:p.Arg165= | |
| NM_201379.3:c.471A>G | NP_958781.1:p.Arg157= | |
| NM_201380.4:c.948A>G | NP_958782.1:p.Arg316= | |
| NM_201381.3:c.441A>G | NP_958783.1:p.Arg147= | |
| NM_201382.4:c.537A>G | NP_958784.1:p.Arg179= | |
| NM_201383.3:c.549A>G | NP_958785.1:p.Arg183= | |
| NM_201384.3:c.537A>G MANE Select | NP_958786.1:p.Arg179= |