Linked Data
ClinVar Variation Id:
497052
dbSNP Id:
rs375489890
ExAC:
8:144997698 C / T
gnomAD v2:
8-144997698-C-T
gnomAD v3:
8-143923530-C-T
gnomAD v4:
8-143923530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923530C>T , CM000670.2:g.143923530C>T | GRCh38 |
| NC_000008.10:g.144997698C>T , CM000670.1:g.144997698C>T | GRCh37 |
| NC_000008.9:g.145069686C>T | NCBI36 |
| NG_012492.1:g.58216G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6531G>A | ENSP00000437303.2:p.Ala2177= | |
| ENST00000685198.1:c.6450G>A | ENSP00000510528.1:p.Ala2150= | |
| ENST00000687971.1:c.6117G>A | ENSP00000510788.1:p.Ala2039= | |
| ENST00000693060.1:c.6330G>A | ENSP00000510329.1:p.Ala2110= | |
| ENST00000345136.8:c.6399G>A MANE Select | ENSP00000344848.3:p.Ala2133= | |
| ENST00000527303.2:c.4126-1135G>A | ENSP00000433982.2:n.4126-1135G>A | |
| ENST00000322810.8:c.6810G>A | ENSP00000323856.4:p.Ala2270= | |
| ENST00000345136.7:c.6399G>A | ENSP00000344848.3:p.Ala2133= | |
| ENST00000354589.7:c.6399G>A | ENSP00000346602.3:p.Ala2133= | |
| ENST00000354958.6:c.6333G>A | ENSP00000347044.2:p.Ala2111= | |
| ENST00000356346.7:c.6357G>A MANE Plus Clinical | ENSP00000348702.3:p.Ala2119= | |
| ENST00000357649.6:c.6411G>A | ENSP00000350277.2:p.Ala2137= | |
| ENST00000398774.6:c.6303G>A | ENSP00000381756.2:p.Ala2101= | |
| ENST00000436759.6:c.6480G>A | ENSP00000388180.2:p.Ala2160= | |
| ENST00000527096.5:c.6468G>A | ENSP00000434583.1:p.Ala2156= | |
| ENST00000527303.1:c.135-1135G>A | ||
| NM_000445.4:c.6480G>A | NP_000436.2:p.Ala2160= | |
| NM_201378.3:c.6357G>A | NP_958780.1:p.Ala2119= | |
| NM_201379.2:c.6333G>A | NP_958781.1:p.Ala2111= | |
| NM_201380.3:c.6810G>A | NP_958782.1:p.Ala2270= | |
| NM_201381.2:c.6303G>A | NP_958783.1:p.Ala2101= | |
| NM_201382.3:c.6399G>A | NP_958784.1:p.Ala2133= | |
| NM_201383.2:c.6411G>A | NP_958785.1:p.Ala2137= | |
| NM_201384.2:c.6399G>A | NP_958786.1:p.Ala2133= | |
| XM_005250976.2:c.6825G>A | XP_005251033.1:p.Ala2275= | |
| XM_005250978.2:c.6426G>A | XP_005251035.1:p.Ala2142= | |
| XM_005250979.3:c.6414G>A | XP_005251036.1:p.Ala2138= | |
| XM_005250980.3:c.6414G>A | XP_005251037.1:p.Ala2138= | |
| XM_005250981.2:c.6372G>A | XP_005251038.1:p.Ala2124= | |
| XM_005250982.2:c.6348G>A | XP_005251039.1:p.Ala2116= | |
| XM_005250983.2:c.6330G>A | XP_005251040.1:p.Ala2110= | |
| XM_005250984.3:c.6318G>A | XP_005251041.1:p.Ala2106= | |
| XM_006716588.2:c.6495G>A | XP_006716651.1:p.Ala2165= | |
| XM_006716589.2:c.6345G>A | XP_006716652.1:p.Ala2115= | |
| XM_006716590.2:c.6345G>A | XP_006716653.1:p.Ala2115= | |
| XM_011517130.1:c.6414G>A | XP_011515432.1:p.Ala2138= | |
| XM_011517131.1:c.6330G>A | XP_011515433.1:p.Ala2110= | |
| XM_011517132.1:c.4072-1135G>A | XP_011515434.1:n.4072-1135G>A | |
| XM_005250976.4:c.6825G>A | XP_005251033.1:p.Ala2275= | |
| XM_005250978.3:c.6426G>A | XP_005251035.1:p.Ala2142= | |
| XM_005250979.4:c.6414G>A | XP_005251036.1:p.Ala2138= | |
| XM_005250980.4:c.6414G>A | XP_005251037.1:p.Ala2138= | |
| XM_005250981.3:c.6372G>A | XP_005251038.1:p.Ala2124= | |
| XM_005250982.4:c.6348G>A | XP_005251039.1:p.Ala2116= | |
| XM_005250984.5:c.6318G>A | XP_005251041.1:p.Ala2106= | |
| XM_006716588.3:c.6495G>A | XP_006716651.1:p.Ala2165= | |
| XM_006716590.3:c.6345G>A | XP_006716653.1:p.Ala2115= | |
| XM_011517130.2:c.6414G>A | XP_011515432.1:p.Ala2138= | |
| XM_011517131.2:c.6330G>A | XP_011515433.1:p.Ala2110= | |
| XM_011517132.2:c.4072-1135G>A | XP_011515434.1:n.4072-1135G>A | |
| NM_000445.5:c.6480G>A | NP_000436.2:p.Ala2160= | |
| NM_201378.4:c.6357G>A MANE Plus Clinical | NP_958780.1:p.Ala2119= | |
| NM_201379.3:c.6333G>A | NP_958781.1:p.Ala2111= | |
| NM_201380.4:c.6810G>A | NP_958782.1:p.Ala2270= | |
| NM_201381.3:c.6303G>A | NP_958783.1:p.Ala2101= | |
| NM_201382.4:c.6399G>A | NP_958784.1:p.Ala2133= | |
| NM_201383.3:c.6411G>A | NP_958785.1:p.Ala2137= | |
| NM_201384.3:c.6399G>A MANE Select | NP_958786.1:p.Ala2133= |