Linked Data
ClinVar Variation Id:
93078
ClinVar RCV Id:
RCV000078893
RCV001521012
RCV001789109
RCV001789110
RCV001789106
RCV001789107
RCV001789108
dbSNP Id:
rs11778026
ExAC:
8:144996408 T / G
gnomAD v2:
8-144996408-T-G
gnomAD v3:
8-143922240-T-G
gnomAD v4:
8-143922240-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143922240T>G , CM000670.2:g.143922240T>G | GRCh38 |
| NC_000008.10:g.144996408T>G , CM000670.1:g.144996408T>G | GRCh37 |
| NC_000008.9:g.145068396T>G | NCBI36 |
| NG_012492.1:g.59506A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.7713A>C | ENSP00000437303.2:p.Ala2571= | |
| ENST00000685198.1:c.7632A>C | ENSP00000510528.1:p.Ala2544= | |
| ENST00000687971.1:c.7299A>C | ENSP00000510788.1:p.Ala2433= | |
| ENST00000693060.1:c.7512A>C | ENSP00000510329.1:p.Ala2504= | |
| ENST00000345136.8:c.7581A>C MANE Select | ENSP00000344848.3:p.Ala2527= | |
| ENST00000527303.2:c.4281A>C | ENSP00000433982.2:p.Ala1427= | |
| ENST00000322810.8:c.7992A>C | ENSP00000323856.4:p.Ala2664= | |
| ENST00000345136.7:c.7581A>C | ENSP00000344848.3:p.Ala2527= | |
| ENST00000354589.7:c.7581A>C | ENSP00000346602.3:p.Ala2527= | |
| ENST00000354958.6:c.7515A>C | ENSP00000347044.2:p.Ala2505= | |
| ENST00000356346.7:c.7539A>C MANE Plus Clinical | ENSP00000348702.3:p.Ala2513= | |
| ENST00000357649.6:c.7593A>C | ENSP00000350277.2:p.Ala2531= | |
| ENST00000398774.6:c.7485A>C | ENSP00000381756.2:p.Ala2495= | |
| ENST00000436759.6:c.7662A>C | ENSP00000388180.2:p.Ala2554= | |
| ENST00000527096.5:c.7650A>C | ENSP00000434583.1:p.Ala2550= | |
| ENST00000527303.1:c.290A>C | ||
| NM_000445.4:c.7662A>C | NP_000436.2:p.Ala2554= | |
| NM_201378.3:c.7539A>C | NP_958780.1:p.Ala2513= | |
| NM_201379.2:c.7515A>C | NP_958781.1:p.Ala2505= | |
| NM_201380.3:c.7992A>C | NP_958782.1:p.Ala2664= | |
| NM_201381.2:c.7485A>C | NP_958783.1:p.Ala2495= | |
| NM_201382.3:c.7581A>C | NP_958784.1:p.Ala2527= | |
| NM_201383.2:c.7593A>C | NP_958785.1:p.Ala2531= | |
| NM_201384.2:c.7581A>C | NP_958786.1:p.Ala2527= | |
| XM_005250976.2:c.8007A>C | XP_005251033.1:p.Ala2669= | |
| XM_005250978.2:c.7608A>C | XP_005251035.1:p.Ala2536= | |
| XM_005250979.3:c.7596A>C | XP_005251036.1:p.Ala2532= | |
| XM_005250980.3:c.7596A>C | XP_005251037.1:p.Ala2532= | |
| XM_005250981.2:c.7554A>C | XP_005251038.1:p.Ala2518= | |
| XM_005250982.2:c.7530A>C | XP_005251039.1:p.Ala2510= | |
| XM_005250983.2:c.7512A>C | XP_005251040.1:p.Ala2504= | |
| XM_005250984.3:c.7500A>C | XP_005251041.1:p.Ala2500= | |
| XM_006716588.2:c.7677A>C | XP_006716651.1:p.Ala2559= | |
| XM_006716589.2:c.7527A>C | XP_006716652.1:p.Ala2509= | |
| XM_006716590.2:c.7527A>C | XP_006716653.1:p.Ala2509= | |
| XM_011517130.1:c.7596A>C | XP_011515432.1:p.Ala2532= | |
| XM_011517131.1:c.7512A>C | XP_011515433.1:p.Ala2504= | |
| XM_011517132.1:c.4227A>C | XP_011515434.1:p.Ala1409= | |
| XM_005250976.4:c.8007A>C | XP_005251033.1:p.Ala2669= | |
| XM_005250978.3:c.7608A>C | XP_005251035.1:p.Ala2536= | |
| XM_005250979.4:c.7596A>C | XP_005251036.1:p.Ala2532= | |
| XM_005250980.4:c.7596A>C | XP_005251037.1:p.Ala2532= | |
| XM_005250981.3:c.7554A>C | XP_005251038.1:p.Ala2518= | |
| XM_005250982.4:c.7530A>C | XP_005251039.1:p.Ala2510= | |
| XM_005250984.5:c.7500A>C | XP_005251041.1:p.Ala2500= | |
| XM_006716588.3:c.7677A>C | XP_006716651.1:p.Ala2559= | |
| XM_006716590.3:c.7527A>C | XP_006716653.1:p.Ala2509= | |
| XM_011517130.2:c.7596A>C | XP_011515432.1:p.Ala2532= | |
| XM_011517131.2:c.7512A>C | XP_011515433.1:p.Ala2504= | |
| XM_011517132.2:c.4227A>C | XP_011515434.1:p.Ala1409= | |
| NM_000445.5:c.7662A>C | NP_000436.2:p.Ala2554= | |
| NM_201378.4:c.7539A>C MANE Plus Clinical | NP_958780.1:p.Ala2513= | |
| NM_201379.3:c.7515A>C | NP_958781.1:p.Ala2505= | |
| NM_201380.4:c.7992A>C | NP_958782.1:p.Ala2664= | |
| NM_201381.3:c.7485A>C | NP_958783.1:p.Ala2495= | |
| NM_201382.4:c.7581A>C | NP_958784.1:p.Ala2527= | |
| NM_201383.3:c.7593A>C | NP_958785.1:p.Ala2531= | |
| NM_201384.3:c.7581A>C MANE Select | NP_958786.1:p.Ala2527= |