Linked Data
ClinVar Variation Id:
282422
dbSNP Id:
rs564072063
ExAC:
8:145008159 C / G
gnomAD v2:
8-145008159-C-G
gnomAD v4:
8-143933991-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143933991C>G , CM000670.2:g.143933991C>G | GRCh38 |
| NC_000008.10:g.145008159C>G , CM000670.1:g.145008159C>G | GRCh37 |
| NC_000008.9:g.145080147C>G | NCBI36 |
| NG_012492.1:g.47755G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.1395+7G>C | ENSP00000437303.2:n.1395+7G>C | |
| ENST00000685198.1:c.1314+7G>C | ENSP00000510528.1:n.1314+7G>C | |
| ENST00000687971.1:c.981+7G>C | ENSP00000510788.1:n.981+7G>C | |
| ENST00000693060.1:c.1194+7G>C | ENSP00000510329.1:n.1194+7G>C | |
| ENST00000345136.8:c.1263+7G>C MANE Select | ENSP00000344848.3:n.1263+7G>C | |
| ENST00000527303.2:c.1344+7G>C | ENSP00000433982.2:n.1344+7G>C | |
| ENST00000322810.8:c.1674+7G>C | ENSP00000323856.4:n.1674+7G>C | |
| ENST00000345136.7:c.1263+7G>C | ENSP00000344848.3:n.1263+7G>C | |
| ENST00000354589.7:c.1263+7G>C | ENSP00000346602.3:n.1263+7G>C | |
| ENST00000354958.6:c.1197+7G>C | ENSP00000347044.2:n.1197+7G>C | |
| ENST00000356346.7:c.1221+7G>C MANE Plus Clinical | ENSP00000348702.3:n.1221+7G>C | |
| ENST00000357649.6:c.1275+7G>C | ENSP00000350277.2:n.1275+7G>C | |
| ENST00000398774.6:c.1167+7G>C | ENSP00000381756.2:n.1167+7G>C | |
| ENST00000436759.6:c.1344+7G>C | ENSP00000388180.2:n.1344+7G>C | |
| ENST00000527096.5:c.1332+7G>C | ENSP00000434583.1:n.1332+7G>C | |
| ENST00000528025.5:c.1395+7G>C | ENSP00000437303.1:n.1395+7G>C | |
| NM_000445.4:c.1344+7G>C | NP_000436.2:n.1344+7G>C | |
| NM_201378.3:c.1221+7G>C | NP_958780.1:n.1221+7G>C | |
| NM_201379.2:c.1197+7G>C | NP_958781.1:n.1197+7G>C | |
| NM_201380.3:c.1674+7G>C | NP_958782.1:n.1674+7G>C | |
| NM_201381.2:c.1167+7G>C | NP_958783.1:n.1167+7G>C | |
| NM_201382.3:c.1263+7G>C | NP_958784.1:n.1263+7G>C | |
| NM_201383.2:c.1275+7G>C | NP_958785.1:n.1275+7G>C | |
| NM_201384.2:c.1263+7G>C | NP_958786.1:n.1263+7G>C | |
| XM_005250976.2:c.1689+7G>C | XP_005251033.1:n.1689+7G>C | |
| XM_005250978.2:c.1290+7G>C | XP_005251035.1:n.1290+7G>C | |
| XM_005250979.3:c.1278+7G>C | XP_005251036.1:n.1278+7G>C | |
| XM_005250980.3:c.1278+7G>C | XP_005251037.1:n.1278+7G>C | |
| XM_005250981.2:c.1236+7G>C | XP_005251038.1:n.1236+7G>C | |
| XM_005250982.2:c.1212+7G>C | XP_005251039.1:n.1212+7G>C | |
| XM_005250983.2:c.1194+7G>C | XP_005251040.1:n.1194+7G>C | |
| XM_005250984.3:c.1182+7G>C | XP_005251041.1:n.1182+7G>C | |
| XM_006716588.2:c.1359+7G>C | XP_006716651.1:n.1359+7G>C | |
| XM_006716589.2:c.1209+7G>C | XP_006716652.1:n.1209+7G>C | |
| XM_006716590.2:c.1209+7G>C | XP_006716653.1:n.1209+7G>C | |
| XM_011517130.1:c.1278+7G>C | XP_011515432.1:n.1278+7G>C | |
| XM_011517131.1:c.1194+7G>C | XP_011515433.1:n.1194+7G>C | |
| XM_011517132.1:c.1290+7G>C | XP_011515434.1:n.1290+7G>C | |
| XM_005250976.4:c.1689+7G>C | XP_005251033.1:n.1689+7G>C | |
| XM_005250978.3:c.1290+7G>C | XP_005251035.1:n.1290+7G>C | |
| XM_005250979.4:c.1278+7G>C | XP_005251036.1:n.1278+7G>C | |
| XM_005250980.4:c.1278+7G>C | XP_005251037.1:n.1278+7G>C | |
| XM_005250981.3:c.1236+7G>C | XP_005251038.1:n.1236+7G>C | |
| XM_005250982.4:c.1212+7G>C | XP_005251039.1:n.1212+7G>C | |
| XM_005250984.5:c.1182+7G>C | XP_005251041.1:n.1182+7G>C | |
| XM_006716588.3:c.1359+7G>C | XP_006716651.1:n.1359+7G>C | |
| XM_006716590.3:c.1209+7G>C | XP_006716653.1:n.1209+7G>C | |
| XM_011517130.2:c.1278+7G>C | XP_011515432.1:n.1278+7G>C | |
| XM_011517131.2:c.1194+7G>C | XP_011515433.1:n.1194+7G>C | |
| XM_011517132.2:c.1290+7G>C | XP_011515434.1:n.1290+7G>C | |
| NM_000445.5:c.1344+7G>C | NP_000436.2:n.1344+7G>C | |
| NM_201378.4:c.1221+7G>C MANE Plus Clinical | NP_958780.1:n.1221+7G>C | |
| NM_201379.3:c.1197+7G>C | NP_958781.1:n.1197+7G>C | |
| NM_201380.4:c.1674+7G>C | NP_958782.1:n.1674+7G>C | |
| NM_201381.3:c.1167+7G>C | NP_958783.1:n.1167+7G>C | |
| NM_201382.4:c.1263+7G>C | NP_958784.1:n.1263+7G>C | |
| NM_201383.3:c.1275+7G>C | NP_958785.1:n.1275+7G>C | |
| NM_201384.3:c.1263+7G>C MANE Select | NP_958786.1:n.1263+7G>C |