Linked Data
ClinVar Variation Id:
514034
dbSNP Id:
rs373831849
ExAC:
8:144994822 G / T
gnomAD v2:
8-144994822-G-T
gnomAD v3:
8-143920654-G-T
gnomAD v4:
8-143920654-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143920654G>T , CM000670.2:g.143920654G>T | GRCh38 |
| NC_000008.10:g.144994822G>T , CM000670.1:g.144994822G>T | GRCh37 |
| NC_000008.9:g.145066810G>T | NCBI36 |
| NG_012492.1:g.61092C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.9299C>A | ENSP00000437303.2:p.Ala3100Asp | |
| ENST00000685198.1:c.9218C>A | ENSP00000510528.1:p.Ala3073Asp | |
| ENST00000687971.1:c.8885C>A | ENSP00000510788.1:p.Ala2962Asp | |
| ENST00000693060.1:c.9098C>A | ENSP00000510329.1:p.Ala3033Asp | |
| ENST00000345136.8:c.9167C>A MANE Select | ENSP00000344848.3:p.Ala3056Asp | |
| ENST00000527303.2:c.5867C>A | ENSP00000433982.2:p.Ala1956Asp | |
| ENST00000322810.8:c.9578C>A | ENSP00000323856.4:p.Ala3193Asp | |
| ENST00000345136.7:c.9167C>A | ENSP00000344848.3:p.Ala3056Asp | |
| ENST00000354589.7:c.9167C>A | ENSP00000346602.3:p.Ala3056Asp | |
| ENST00000354958.6:c.9101C>A | ENSP00000347044.2:p.Ala3034Asp | |
| ENST00000356346.7:c.9125C>A MANE Plus Clinical | ENSP00000348702.3:p.Ala3042Asp | |
| ENST00000357649.6:c.9179C>A | ENSP00000350277.2:p.Ala3060Asp | |
| ENST00000398774.6:c.9071C>A | ENSP00000381756.2:p.Ala3024Asp | |
| ENST00000436759.6:c.9248C>A | ENSP00000388180.2:p.Ala3083Asp | |
| ENST00000527096.5:c.9236C>A | ENSP00000434583.1:p.Ala3079Asp | |
| NM_000445.4:c.9248C>A | NP_000436.2:p.Ala3083Asp | |
| NM_201378.3:c.9125C>A | NP_958780.1:p.Ala3042Asp | |
| NM_201379.2:c.9101C>A | NP_958781.1:p.Ala3034Asp | |
| NM_201380.3:c.9578C>A | NP_958782.1:p.Ala3193Asp | |
| NM_201381.2:c.9071C>A | NP_958783.1:p.Ala3024Asp | |
| NM_201382.3:c.9167C>A | NP_958784.1:p.Ala3056Asp | |
| NM_201383.2:c.9179C>A | NP_958785.1:p.Ala3060Asp | |
| NM_201384.2:c.9167C>A | NP_958786.1:p.Ala3056Asp | |
| XM_005250976.2:c.9593C>A | XP_005251033.1:p.Ala3198Asp | |
| XM_005250978.2:c.9194C>A | XP_005251035.1:p.Ala3065Asp | |
| XM_005250979.3:c.9182C>A | XP_005251036.1:p.Ala3061Asp | |
| XM_005250980.3:c.9182C>A | XP_005251037.1:p.Ala3061Asp | |
| XM_005250981.2:c.9140C>A | XP_005251038.1:p.Ala3047Asp | |
| XM_005250982.2:c.9116C>A | XP_005251039.1:p.Ala3039Asp | |
| XM_005250983.2:c.9098C>A | XP_005251040.1:p.Ala3033Asp | |
| XM_005250984.3:c.9086C>A | XP_005251041.1:p.Ala3029Asp | |
| XM_006716588.2:c.9263C>A | XP_006716651.1:p.Ala3088Asp | |
| XM_006716589.2:c.9113C>A | XP_006716652.1:p.Ala3038Asp | |
| XM_006716590.2:c.9113C>A | XP_006716653.1:p.Ala3038Asp | |
| XM_011517130.1:c.9182C>A | XP_011515432.1:p.Ala3061Asp | |
| XM_011517131.1:c.9098C>A | XP_011515433.1:p.Ala3033Asp | |
| XM_011517132.1:c.5813C>A | XP_011515434.1:p.Ala1938Asp | |
| XM_005250976.4:c.9593C>A | XP_005251033.1:p.Ala3198Asp | |
| XM_005250978.3:c.9194C>A | XP_005251035.1:p.Ala3065Asp | |
| XM_005250979.4:c.9182C>A | XP_005251036.1:p.Ala3061Asp | |
| XM_005250980.4:c.9182C>A | XP_005251037.1:p.Ala3061Asp | |
| XM_005250981.3:c.9140C>A | XP_005251038.1:p.Ala3047Asp | |
| XM_005250982.4:c.9116C>A | XP_005251039.1:p.Ala3039Asp | |
| XM_005250984.5:c.9086C>A | XP_005251041.1:p.Ala3029Asp | |
| XM_006716588.3:c.9263C>A | XP_006716651.1:p.Ala3088Asp | |
| XM_006716590.3:c.9113C>A | XP_006716653.1:p.Ala3038Asp | |
| XM_011517130.2:c.9182C>A | XP_011515432.1:p.Ala3061Asp | |
| XM_011517131.2:c.9098C>A | XP_011515433.1:p.Ala3033Asp | |
| XM_011517132.2:c.5813C>A | XP_011515434.1:p.Ala1938Asp | |
| NM_000445.5:c.9248C>A | NP_000436.2:p.Ala3083Asp | |
| NM_201378.4:c.9125C>A MANE Plus Clinical | NP_958780.1:p.Ala3042Asp | |
| NM_201379.3:c.9101C>A | NP_958781.1:p.Ala3034Asp | |
| NM_201380.4:c.9578C>A | NP_958782.1:p.Ala3193Asp | |
| NM_201381.3:c.9071C>A | NP_958783.1:p.Ala3024Asp | |
| NM_201382.4:c.9167C>A | NP_958784.1:p.Ala3056Asp | |
| NM_201383.3:c.9179C>A | NP_958785.1:p.Ala3060Asp | |
| NM_201384.3:c.9167C>A MANE Select | NP_958786.1:p.Ala3056Asp |