Linked Data
ClinVar Variation Id:
281849
dbSNP Id:
rs369344419
ExAC:
8:145004447 T / C
gnomAD v2:
8-145004447-T-C
gnomAD v3:
8-143930279-T-C
gnomAD v4:
8-143930279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143930279T>C , CM000670.2:g.143930279T>C | GRCh38 |
| NC_000008.10:g.145004447T>C , CM000670.1:g.145004447T>C | GRCh37 |
| NC_000008.9:g.145076435T>C | NCBI36 |
| NG_012492.1:g.51467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.2609A>G | ENSP00000437303.2:p.Asp870Gly | |
| ENST00000685198.1:c.2528A>G | ENSP00000510528.1:p.Asp843Gly | |
| ENST00000687971.1:c.2195A>G | ENSP00000510788.1:p.Asp732Gly | |
| ENST00000693060.1:c.2408A>G | ENSP00000510329.1:p.Asp803Gly | |
| ENST00000345136.8:c.2477A>G MANE Select | ENSP00000344848.3:p.Asp826Gly | |
| ENST00000527303.2:c.2558A>G | ENSP00000433982.2:p.Asp853Gly | |
| ENST00000322810.8:c.2888A>G | ENSP00000323856.4:p.Asp963Gly | |
| ENST00000345136.7:c.2477A>G | ENSP00000344848.3:p.Asp826Gly | |
| ENST00000354589.7:c.2477A>G | ENSP00000346602.3:p.Asp826Gly | |
| ENST00000354958.6:c.2411A>G | ENSP00000347044.2:p.Asp804Gly | |
| ENST00000356346.7:c.2435A>G MANE Plus Clinical | ENSP00000348702.3:p.Asp812Gly | |
| ENST00000357649.6:c.2489A>G | ENSP00000350277.2:p.Asp830Gly | |
| ENST00000398774.6:c.2381A>G | ENSP00000381756.2:p.Asp794Gly | |
| ENST00000436759.6:c.2558A>G | ENSP00000388180.2:p.Asp853Gly | |
| ENST00000527096.5:c.2546A>G | ENSP00000434583.1:p.Asp849Gly | |
| NM_000445.4:c.2558A>G | NP_000436.2:p.Asp853Gly | |
| NM_201378.3:c.2435A>G | NP_958780.1:p.Asp812Gly | |
| NM_201379.2:c.2411A>G | NP_958781.1:p.Asp804Gly | |
| NM_201380.3:c.2888A>G | NP_958782.1:p.Asp963Gly | |
| NM_201381.2:c.2381A>G | NP_958783.1:p.Asp794Gly | |
| NM_201382.3:c.2477A>G | NP_958784.1:p.Asp826Gly | |
| NM_201383.2:c.2489A>G | NP_958785.1:p.Asp830Gly | |
| NM_201384.2:c.2477A>G | NP_958786.1:p.Asp826Gly | |
| XM_005250976.2:c.2903A>G | XP_005251033.1:p.Asp968Gly | |
| XM_005250978.2:c.2504A>G | XP_005251035.1:p.Asp835Gly | |
| XM_005250979.3:c.2492A>G | XP_005251036.1:p.Asp831Gly | |
| XM_005250980.3:c.2492A>G | XP_005251037.1:p.Asp831Gly | |
| XM_005250981.2:c.2450A>G | XP_005251038.1:p.Asp817Gly | |
| XM_005250982.2:c.2426A>G | XP_005251039.1:p.Asp809Gly | |
| XM_005250983.2:c.2408A>G | XP_005251040.1:p.Asp803Gly | |
| XM_005250984.3:c.2396A>G | XP_005251041.1:p.Asp799Gly | |
| XM_006716588.2:c.2573A>G | XP_006716651.1:p.Asp858Gly | |
| XM_006716589.2:c.2423A>G | XP_006716652.1:p.Asp808Gly | |
| XM_006716590.2:c.2423A>G | XP_006716653.1:p.Asp808Gly | |
| XM_011517130.1:c.2492A>G | XP_011515432.1:p.Asp831Gly | |
| XM_011517131.1:c.2408A>G | XP_011515433.1:p.Asp803Gly | |
| XM_011517132.1:c.2504A>G | XP_011515434.1:p.Asp835Gly | |
| XM_005250976.4:c.2903A>G | XP_005251033.1:p.Asp968Gly | |
| XM_005250978.3:c.2504A>G | XP_005251035.1:p.Asp835Gly | |
| XM_005250979.4:c.2492A>G | XP_005251036.1:p.Asp831Gly | |
| XM_005250980.4:c.2492A>G | XP_005251037.1:p.Asp831Gly | |
| XM_005250981.3:c.2450A>G | XP_005251038.1:p.Asp817Gly | |
| XM_005250982.4:c.2426A>G | XP_005251039.1:p.Asp809Gly | |
| XM_005250984.5:c.2396A>G | XP_005251041.1:p.Asp799Gly | |
| XM_006716588.3:c.2573A>G | XP_006716651.1:p.Asp858Gly | |
| XM_006716590.3:c.2423A>G | XP_006716653.1:p.Asp808Gly | |
| XM_011517130.2:c.2492A>G | XP_011515432.1:p.Asp831Gly | |
| XM_011517131.2:c.2408A>G | XP_011515433.1:p.Asp803Gly | |
| XM_011517132.2:c.2504A>G | XP_011515434.1:p.Asp835Gly | |
| NM_000445.5:c.2558A>G | NP_000436.2:p.Asp853Gly | |
| NM_201378.4:c.2435A>G MANE Plus Clinical | NP_958780.1:p.Asp812Gly | |
| NM_201379.3:c.2411A>G | NP_958781.1:p.Asp804Gly | |
| NM_201380.4:c.2888A>G | NP_958782.1:p.Asp963Gly | |
| NM_201381.3:c.2381A>G | NP_958783.1:p.Asp794Gly | |
| NM_201382.4:c.2477A>G | NP_958784.1:p.Asp826Gly | |
| NM_201383.3:c.2489A>G | NP_958785.1:p.Asp830Gly | |
| NM_201384.3:c.2477A>G MANE Select | NP_958786.1:p.Asp826Gly |