Linked Data
ClinVar Variation Id:
266032
dbSNP Id:
rs199505812
ExAC:
8:145024726 C / T
gnomAD v2:
8-145024726-C-T
gnomAD v3:
8-143950558-C-T
gnomAD v4:
8-143950558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143950558C>T , CM000670.2:g.143950558C>T | GRCh38 |
| NC_000008.10:g.145024726C>T , CM000670.1:g.145024726C>T | GRCh37 |
| NC_000008.9:g.145096714C>T | NCBI36 |
| NG_012492.1:g.31188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.194-11866G>A | ENSP00000437303.2:n.194-11866G>A | |
| ENST00000685198.1:c.163+8037G>A | ENSP00000510528.1:n.163+8037G>A | |
| ENST00000527303.2:c.194-11866G>A | ENSP00000433982.2:n.194-11866G>A | |
| ENST00000322810.8:c.149G>A | ENSP00000323856.4:p.Arg50His | |
| ENST00000354958.6:c.46+3168G>A | ENSP00000347044.2:n.46+3168G>A | |
| ENST00000356346.7:c.71-11866G>A MANE Plus Clinical | ENSP00000348702.3:n.71-11866G>A | |
| ENST00000436759.6:c.194-11866G>A | ENSP00000388180.2:n.194-11866G>A | |
| ENST00000527096.5:c.194-11866G>A | ENSP00000434583.1:n.194-11866G>A | |
| ENST00000528025.5:c.194-11866G>A | ENSP00000437303.1:n.194-11866G>A | |
| ENST00000528131.1:c.163+8037G>A | ENSP00000436702.1:n.163+8037G>A | |
| ENST00000532346.1:n.44-11866G>A | ||
| NM_000445.4:c.194-11866G>A | NP_000436.2:n.194-11866G>A | |
| NM_201378.3:c.71-11866G>A | NP_958780.1:n.71-11866G>A | |
| NM_201379.2:c.46+3168G>A | NP_958781.1:n.46+3168G>A | |
| NM_201380.3:c.149G>A | NP_958782.1:p.Arg50His | |
| XM_005250976.2:c.149G>A | XP_005251033.1:p.Arg50His | |
| XM_005250981.2:c.71-11866G>A | XP_005251038.1:n.71-11866G>A | |
| XM_005250982.2:c.46+3168G>A | XP_005251039.1:n.46+3168G>A | |
| XM_006716588.2:c.194-11866G>A | XP_006716651.1:n.194-11866G>A | |
| XM_005250976.4:c.149G>A | XP_005251033.1:p.Arg50His | |
| XM_005250981.3:c.71-11866G>A | XP_005251038.1:n.71-11866G>A | |
| XM_005250982.4:c.46+3168G>A | XP_005251039.1:n.46+3168G>A | |
| XM_006716588.3:c.194-11866G>A | XP_006716651.1:n.194-11866G>A | |
| NM_000445.5:c.194-11866G>A | NP_000436.2:n.194-11866G>A | |
| NM_201378.4:c.71-11866G>A MANE Plus Clinical | NP_958780.1:n.71-11866G>A | |
| NM_201379.3:c.46+3168G>A | NP_958781.1:n.46+3168G>A | |
| NM_201380.4:c.149G>A | NP_958782.1:p.Arg50His |