Linked Data
ClinVar Variation Id:
2602064
ClinVar RCV Id:
RCV004350058
dbSNP Id:
rs891870385
gnomAD v4:
12-14507038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14507038C>T , CM000674.2:g.14507038C>T | GRCh38 |
| NC_000012.11:g.14659972C>T , CM000674.1:g.14659972C>T | GRCh37 |
| NC_000012.10:g.14551239C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240617.10:c.1267G>A MANE Select | ENSP00000240617.5:p.Gly423Ser | |
| ENST00000240617.9:c.1267G>A | ENSP00000240617.5:p.Gly423Ser | |
| NM_024829.5:c.1267G>A | NP_079105.4:p.Gly423Ser | |
| NM_024829.6:c.1267G>A MANE Select | NP_079105.4:p.Gly423Ser |