Linked Data
ClinVar Variation Id:
2252476
ClinVar RCV Id:
RCV002777213
dbSNP Id:
rs930060514
gnomAD v2:
4-780423-C-T
gnomAD v3:
4-786635-C-T
gnomAD v4:
4-786635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.786635C>T , CM000666.2:g.786635C>T | GRCh38 |
| NC_000004.11:g.780423C>T , CM000666.1:g.780423C>T | GRCh37 |
| NC_000004.10:g.770423C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.271G>A MANE Select | ENSP00000305613.6:p.Glu91Lys | |
| ENST00000304062.10:c.271G>A | ENSP00000305613.6:p.Glu91Lys | |
| ENST00000504062.1:c.226G>A | ENSP00000421947.1:p.Glu76Lys | |
| ENST00000505203.1:c.208G>A | ENSP00000425960.1:p.Glu70Lys | |
| ENST00000506404.1:n.324G>A | ||
| NM_006651.3:c.271G>A | NP_006642.1:p.Glu91Lys | |
| XM_011513391.1:c.226G>A | XP_011511693.1:p.Glu76Lys | |
| NM_006651.4:c.271G>A MANE Select | NP_006642.1:p.Glu91Lys |