Linked Data
ClinVar Variation Id:
94013
dbSNP Id:
rs145674833
ExAC:
1:100706416 A / G
gnomAD:
1:100706416 A / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100240860A>G , CM000663.2:g.100240860A>G | GRCh38 |
| NC_000001.10:g.100706416A>G , CM000663.1:g.100706416A>G | GRCh37 |
| NC_000001.9:g.100479004A>G | NCBI36 |
| NG_011852.2:g.13994T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681617.1:c.76T>C | ENSP00000505544.1:p.Cys26Arg | |
| ENST00000681780.1:c.-468T>C | ENSP00000505780.1:p.= | |
| ENST00000370131.3:n.76T>C | ENSP00000359150.3:p.Cys26Arg | |
| ENST00000370132.8:c.76T>C MANE Select | ENSP00000359151.3:p.Cys26Arg | |
| NM_001918.3:c.76T>C | NP_001909.3:p.Cys26Arg | |
| XM_005270545.2:c.-468T>C | XP_005270602.1:p.= | |
| XR_946560.1:n.96T>C | ||
| XM_005270545.4:c.-468T>C | XP_005270602.1:p.= | |
| XM_017000468.2:c.-468T>C | XP_016855957.1:p.= | |
| XR_946560.3:n.93T>C | ||
| NM_001918.4:c.76T>C | NP_001909.3:p.Cys26Arg | |
| NM_001918.5:c.76T>C MANE Select | NP_001909.4:p.Cys26Arg |