Linked Data
ClinVar Variation Id:
14658
ClinVar RCV Id:
RCV001731301
dbSNP Id:
rs121912476
ExAC:
12:52910608 C / T
gnomAD v2:
12-52910608-C-T
gnomAD v3:
12-52516824-C-T
gnomAD v4:
12-52516824-C-T
PubMed:
PMID:11973334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516824C>T , CM000674.2:g.52516824C>T | GRCh38 |
| NC_000012.11:g.52910608C>T , CM000674.1:g.52910608C>T | GRCh37 |
| NC_000012.10:g.51196875C>T | NCBI36 |
| NG_008297.1:g.8636G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.1252G>A MANE Select | ENSP00000252242.4:p.Glu418Lys | |
| ENST00000252242.8:c.1252G>A | ENSP00000252242.4:p.Glu418Lys | |
| ENST00000547890.5:n.630G>A | ||
| ENST00000548409.5:c.374G>A | ||
| ENST00000549511.5:n.459G>A | ||
| ENST00000552629.5:n.1350G>A | ||
| NM_000424.3:c.1252G>A | NP_000415.2:p.Glu418Lys | |
| NM_000424.4:c.1252G>A MANE Select | NP_000415.2:p.Glu418Lys |