Linked Data
ClinVar Variation Id:
386124
dbSNP Id:
rs782016209
ExAC:
8:144996548 G / C
gnomAD v2:
8-144996548-G-C
gnomAD v3:
8-143922380-G-C
gnomAD v4:
8-143922380-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143922380G>C , CM000670.2:g.143922380G>C | GRCh38 |
| NC_000008.10:g.144996548G>C , CM000670.1:g.144996548G>C | GRCh37 |
| NC_000008.9:g.145068536G>C | NCBI36 |
| NG_012492.1:g.59366C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.7573C>G | ENSP00000437303.2:p.Gln2525Glu | |
| ENST00000685198.1:c.7492C>G | ENSP00000510528.1:p.Gln2498Glu | |
| ENST00000687971.1:c.7159C>G | ENSP00000510788.1:p.Gln2387Glu | |
| ENST00000693060.1:c.7372C>G | ENSP00000510329.1:p.Gln2458Glu | |
| ENST00000345136.8:c.7441C>G MANE Select | ENSP00000344848.3:p.Gln2481Glu | |
| ENST00000527303.2:c.4141C>G | ENSP00000433982.2:p.Gln1381Glu | |
| ENST00000322810.8:c.7852C>G | ENSP00000323856.4:p.Gln2618Glu | |
| ENST00000345136.7:c.7441C>G | ENSP00000344848.3:p.Gln2481Glu | |
| ENST00000354589.7:c.7441C>G | ENSP00000346602.3:p.Gln2481Glu | |
| ENST00000354958.6:c.7375C>G | ENSP00000347044.2:p.Gln2459Glu | |
| ENST00000356346.7:c.7399C>G MANE Plus Clinical | ENSP00000348702.3:p.Gln2467Glu | |
| ENST00000357649.6:c.7453C>G | ENSP00000350277.2:p.Gln2485Glu | |
| ENST00000398774.6:c.7345C>G | ENSP00000381756.2:p.Gln2449Glu | |
| ENST00000436759.6:c.7522C>G | ENSP00000388180.2:p.Gln2508Glu | |
| ENST00000527096.5:c.7510C>G | ENSP00000434583.1:p.Gln2504Glu | |
| ENST00000527303.1:c.150C>G | ||
| NM_000445.4:c.7522C>G | NP_000436.2:p.Gln2508Glu | |
| NM_201378.3:c.7399C>G | NP_958780.1:p.Gln2467Glu | |
| NM_201379.2:c.7375C>G | NP_958781.1:p.Gln2459Glu | |
| NM_201380.3:c.7852C>G | NP_958782.1:p.Gln2618Glu | |
| NM_201381.2:c.7345C>G | NP_958783.1:p.Gln2449Glu | |
| NM_201382.3:c.7441C>G | NP_958784.1:p.Gln2481Glu | |
| NM_201383.2:c.7453C>G | NP_958785.1:p.Gln2485Glu | |
| NM_201384.2:c.7441C>G | NP_958786.1:p.Gln2481Glu | |
| XM_005250976.2:c.7867C>G | XP_005251033.1:p.Gln2623Glu | |
| XM_005250978.2:c.7468C>G | XP_005251035.1:p.Gln2490Glu | |
| XM_005250979.3:c.7456C>G | XP_005251036.1:p.Gln2486Glu | |
| XM_005250980.3:c.7456C>G | XP_005251037.1:p.Gln2486Glu | |
| XM_005250981.2:c.7414C>G | XP_005251038.1:p.Gln2472Glu | |
| XM_005250982.2:c.7390C>G | XP_005251039.1:p.Gln2464Glu | |
| XM_005250983.2:c.7372C>G | XP_005251040.1:p.Gln2458Glu | |
| XM_005250984.3:c.7360C>G | XP_005251041.1:p.Gln2454Glu | |
| XM_006716588.2:c.7537C>G | XP_006716651.1:p.Gln2513Glu | |
| XM_006716589.2:c.7387C>G | XP_006716652.1:p.Gln2463Glu | |
| XM_006716590.2:c.7387C>G | XP_006716653.1:p.Gln2463Glu | |
| XM_011517130.1:c.7456C>G | XP_011515432.1:p.Gln2486Glu | |
| XM_011517131.1:c.7372C>G | XP_011515433.1:p.Gln2458Glu | |
| XM_011517132.1:c.4087C>G | XP_011515434.1:p.Gln1363Glu | |
| XM_005250976.4:c.7867C>G | XP_005251033.1:p.Gln2623Glu | |
| XM_005250978.3:c.7468C>G | XP_005251035.1:p.Gln2490Glu | |
| XM_005250979.4:c.7456C>G | XP_005251036.1:p.Gln2486Glu | |
| XM_005250980.4:c.7456C>G | XP_005251037.1:p.Gln2486Glu | |
| XM_005250981.3:c.7414C>G | XP_005251038.1:p.Gln2472Glu | |
| XM_005250982.4:c.7390C>G | XP_005251039.1:p.Gln2464Glu | |
| XM_005250984.5:c.7360C>G | XP_005251041.1:p.Gln2454Glu | |
| XM_006716588.3:c.7537C>G | XP_006716651.1:p.Gln2513Glu | |
| XM_006716590.3:c.7387C>G | XP_006716653.1:p.Gln2463Glu | |
| XM_011517130.2:c.7456C>G | XP_011515432.1:p.Gln2486Glu | |
| XM_011517131.2:c.7372C>G | XP_011515433.1:p.Gln2458Glu | |
| XM_011517132.2:c.4087C>G | XP_011515434.1:p.Gln1363Glu | |
| NM_000445.5:c.7522C>G | NP_000436.2:p.Gln2508Glu | |
| NM_201378.4:c.7399C>G MANE Plus Clinical | NP_958780.1:p.Gln2467Glu | |
| NM_201379.3:c.7375C>G | NP_958781.1:p.Gln2459Glu | |
| NM_201380.4:c.7852C>G | NP_958782.1:p.Gln2618Glu | |
| NM_201381.3:c.7345C>G | NP_958783.1:p.Gln2449Glu | |
| NM_201382.4:c.7441C>G | NP_958784.1:p.Gln2481Glu | |
| NM_201383.3:c.7453C>G | NP_958785.1:p.Gln2485Glu | |
| NM_201384.3:c.7441C>G MANE Select | NP_958786.1:p.Gln2481Glu |