Linked Data
ClinVar Variation Id:
2374265
ClinVar RCV Id:
RCV004208371
dbSNP Id:
rs748728060
ExAC:
11:116619269 G / A
gnomAD v2:
11-116619269-G-A
gnomAD v3:
11-116748553-G-A
gnomAD v4:
11-116748553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748553G>A , CM000673.2:g.116748553G>A | GRCh38 |
| NC_000011.9:g.116619269G>A , CM000673.1:g.116619269G>A | GRCh37 |
| NC_000011.8:g.116124479G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1789C>T MANE Select | ENSP00000260210.3:p.Arg597Cys | |
| ENST00000260210.4:c.1789C>T | ENSP00000260210.3:p.Arg597Cys | |
| ENST00000375445.7:c.1387C>T | ENSP00000364594.3:p.Arg463Cys | |
| ENST00000419189.1:c.564C>T | ||
| NM_001159736.1:c.1387C>T | NP_001153208.1:p.Arg463Cys | |
| NM_032725.3:c.1789C>T | NP_116114.1:p.Arg597Cys | |
| XM_011543035.1:c.1690C>T | XP_011541337.1:p.Arg564Cys | |
| XM_011543035.2:c.1690C>T | XP_011541337.1:p.Arg564Cys | |
| NM_032725.4:c.1789C>T MANE Select | NP_116114.1:p.Arg597Cys | |
| NM_001159736.2:c.1387C>T | NP_001153208.1:p.Arg463Cys |