Linked Data
ClinVar Variation Id:
448370
dbSNP Id:
rs759785462
ExAC:
5:148386608 G / A
gnomAD v2:
5-148386608-G-A
gnomAD v3:
5-149007045-G-A
gnomAD v4:
5-149007045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149007045G>A , CM000667.2:g.149007045G>A | GRCh38 |
| NC_000005.9:g.148386608G>A , CM000667.1:g.148386608G>A | GRCh37 |
| NC_000005.8:g.148366801G>A | NCBI36 |
| NG_007947.2:g.61130C>T , LRG_269:g.61130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.4364C>T | ||
| ENST00000515425.6:c.3511C>T MANE Select | ENSP00000423660.1:p.Arg1171Cys | |
| ENST00000675793.1:c.*4568C>T | ENSP00000502039.1:n.*4568C>T | |
| ENST00000323829.9:c.*2899C>T | ENSP00000313025.5:n.*2899C>T | |
| ENST00000502274.1:c.97C>T | ENSP00000421092.1:p.Arg33Cys | |
| ENST00000504517.5:c.3033C>T | ENSP00000421779.1:n.3033C>T | |
| ENST00000504690.5:c.3511C>T | ENSP00000425627.1:p.Arg1171Cys | |
| ENST00000510350.1:n.67C>T | ||
| ENST00000510779.1:c.2561C>T | ||
| ENST00000512049.5:c.3490C>T | ENSP00000421860.1:p.Arg1164Cys | |
| ENST00000515229.5:n.173C>T | ||
| ENST00000515425.5:c.3511C>T | ENSP00000423660.1:p.Arg1171Cys | |
| NM_024577.3:c.3511C>T , LRG_269t1:c.3511C>T | NP_078853.2:p.Arg1171Cys | |
| NM_024577.4:c.3511C>T MANE Select | NP_078853.2:p.Arg1171Cys |