Linked Data
ClinVar Variation Id:
196750
dbSNP Id:
rs144242254
ExAC:
8:144997503 G / A
gnomAD v2:
8-144997503-G-A
gnomAD v3:
8-143923335-G-A
gnomAD v4:
8-143923335-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143923335G>A , CM000670.2:g.143923335G>A | GRCh38 |
| NC_000008.10:g.144997503G>A , CM000670.1:g.144997503G>A | GRCh37 |
| NC_000008.9:g.145069491G>A | NCBI36 |
| NG_012492.1:g.58411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.6726C>T | ENSP00000437303.2:p.Thr2242= | |
| ENST00000685198.1:c.6645C>T | ENSP00000510528.1:p.Thr2215= | |
| ENST00000687971.1:c.6312C>T | ENSP00000510788.1:p.Thr2104= | |
| ENST00000693060.1:c.6525C>T | ENSP00000510329.1:p.Thr2175= | |
| ENST00000345136.8:c.6594C>T MANE Select | ENSP00000344848.3:p.Thr2198= | |
| ENST00000527303.2:c.4126-940C>T | ENSP00000433982.2:n.4126-940C>T | |
| ENST00000322810.8:c.7005C>T | ENSP00000323856.4:p.Thr2335= | |
| ENST00000345136.7:c.6594C>T | ENSP00000344848.3:p.Thr2198= | |
| ENST00000354589.7:c.6594C>T | ENSP00000346602.3:p.Thr2198= | |
| ENST00000354958.6:c.6528C>T | ENSP00000347044.2:p.Thr2176= | |
| ENST00000356346.7:c.6552C>T MANE Plus Clinical | ENSP00000348702.3:p.Thr2184= | |
| ENST00000357649.6:c.6606C>T | ENSP00000350277.2:p.Thr2202= | |
| ENST00000398774.6:c.6498C>T | ENSP00000381756.2:p.Thr2166= | |
| ENST00000436759.6:c.6675C>T | ENSP00000388180.2:p.Thr2225= | |
| ENST00000527096.5:c.6663C>T | ENSP00000434583.1:p.Thr2221= | |
| ENST00000527303.1:c.135-940C>T | ||
| NM_000445.4:c.6675C>T | NP_000436.2:p.Thr2225= | |
| NM_201378.3:c.6552C>T | NP_958780.1:p.Thr2184= | |
| NM_201379.2:c.6528C>T | NP_958781.1:p.Thr2176= | |
| NM_201380.3:c.7005C>T | NP_958782.1:p.Thr2335= | |
| NM_201381.2:c.6498C>T | NP_958783.1:p.Thr2166= | |
| NM_201382.3:c.6594C>T | NP_958784.1:p.Thr2198= | |
| NM_201383.2:c.6606C>T | NP_958785.1:p.Thr2202= | |
| NM_201384.2:c.6594C>T | NP_958786.1:p.Thr2198= | |
| XM_005250976.2:c.7020C>T | XP_005251033.1:p.Thr2340= | |
| XM_005250978.2:c.6621C>T | XP_005251035.1:p.Thr2207= | |
| XM_005250979.3:c.6609C>T | XP_005251036.1:p.Thr2203= | |
| XM_005250980.3:c.6609C>T | XP_005251037.1:p.Thr2203= | |
| XM_005250981.2:c.6567C>T | XP_005251038.1:p.Thr2189= | |
| XM_005250982.2:c.6543C>T | XP_005251039.1:p.Thr2181= | |
| XM_005250983.2:c.6525C>T | XP_005251040.1:p.Thr2175= | |
| XM_005250984.3:c.6513C>T | XP_005251041.1:p.Thr2171= | |
| XM_006716588.2:c.6690C>T | XP_006716651.1:p.Thr2230= | |
| XM_006716589.2:c.6540C>T | XP_006716652.1:p.Thr2180= | |
| XM_006716590.2:c.6540C>T | XP_006716653.1:p.Thr2180= | |
| XM_011517130.1:c.6609C>T | XP_011515432.1:p.Thr2203= | |
| XM_011517131.1:c.6525C>T | XP_011515433.1:p.Thr2175= | |
| XM_011517132.1:c.4072-940C>T | XP_011515434.1:n.4072-940C>T | |
| XM_005250976.4:c.7020C>T | XP_005251033.1:p.Thr2340= | |
| XM_005250978.3:c.6621C>T | XP_005251035.1:p.Thr2207= | |
| XM_005250979.4:c.6609C>T | XP_005251036.1:p.Thr2203= | |
| XM_005250980.4:c.6609C>T | XP_005251037.1:p.Thr2203= | |
| XM_005250981.3:c.6567C>T | XP_005251038.1:p.Thr2189= | |
| XM_005250982.4:c.6543C>T | XP_005251039.1:p.Thr2181= | |
| XM_005250984.5:c.6513C>T | XP_005251041.1:p.Thr2171= | |
| XM_006716588.3:c.6690C>T | XP_006716651.1:p.Thr2230= | |
| XM_006716590.3:c.6540C>T | XP_006716653.1:p.Thr2180= | |
| XM_011517130.2:c.6609C>T | XP_011515432.1:p.Thr2203= | |
| XM_011517131.2:c.6525C>T | XP_011515433.1:p.Thr2175= | |
| XM_011517132.2:c.4072-940C>T | XP_011515434.1:n.4072-940C>T | |
| NM_000445.5:c.6675C>T | NP_000436.2:p.Thr2225= | |
| NM_201378.4:c.6552C>T MANE Plus Clinical | NP_958780.1:p.Thr2184= | |
| NM_201379.3:c.6528C>T | NP_958781.1:p.Thr2176= | |
| NM_201380.4:c.7005C>T | NP_958782.1:p.Thr2335= | |
| NM_201381.3:c.6498C>T | NP_958783.1:p.Thr2166= | |
| NM_201382.4:c.6594C>T | NP_958784.1:p.Thr2198= | |
| NM_201383.3:c.6606C>T | NP_958785.1:p.Thr2202= | |
| NM_201384.3:c.6594C>T MANE Select | NP_958786.1:p.Thr2198= |