Linked Data
ClinVar Variation Id:
186
dbSNP Id:
rs121964924
ExAC:
8:105440222 A / G
gnomAD v2:
8-105440222-A-G
gnomAD v3:
8-104427994-A-G
gnomAD v4:
8-104427994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104427994A>G , CM000670.2:g.104427994A>G | GRCh38 |
| NC_000008.10:g.105440222A>G , CM000670.1:g.105440222A>G | GRCh37 |
| NC_000008.9:g.105509398A>G | NCBI36 |
| NG_008840.1:g.44056T>C | |
| NG_008840.2:g.44056T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351513.7:c.1078T>C MANE Select | ENSP00000276651.2:p.Trp360Arg | |
| ENST00000351513.6:c.1078T>C | ENSP00000276651.2:p.Trp360Arg | |
| NM_001385.2:c.1078T>C | NP_001376.1:p.Trp360Arg | |
| XM_005250818.2:c.1078T>C | XP_005250875.1:p.Trp360Arg | |
| XM_006716518.2:c.919T>C | XP_006716581.1:p.Trp307Arg | |
| XM_011516903.1:c.1078T>C | XP_011515205.1:p.Trp360Arg | |
| XM_011516904.1:c.1078T>C | XP_011515206.1:p.Trp360Arg | |
| XM_005250818.3:c.1078T>C | XP_005250875.1:p.Trp360Arg | |
| XM_006716518.3:c.919T>C | XP_006716581.1:p.Trp307Arg | |
| XM_011516903.3:c.1078T>C | XP_011515205.1:p.Trp360Arg | |
| XM_017013167.2:c.1078T>C | XP_016868656.1:p.Trp360Arg | |
| XM_024447087.1:c.1078T>C | XP_024302855.1:p.Trp360Arg | |
| XR_001745489.1:n.1232T>C | ||
| XR_001745490.2:n.1232T>C | ||
| NM_001385.3:c.1078T>C MANE Select | NP_001376.1:p.Trp360Arg |