Linked Data
ClinVar Variation Id:
4600
ClinVar RCV Id:
RCV000004863
dbSNP Id:
rs587776602
gnomAD v4:
8-142741802-C-T
PubMed:
PMID:11285253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741802C>T , CM000670.2:g.142741802C>T | GRCh38 |
| NC_000008.10:g.143823220C>T , CM000670.1:g.143823220C>T | GRCh37 |
| NC_000008.9:g.143820222C>T | NCBI36 |
| NG_011494.1:g.5610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246515.2:c.178+1G>A MANE Select | ENSP00000246515.1:n.178+1G>A | |
| ENST00000246515.1:c.178+1G>A | ENSP00000246515.1:n.178+1G>A | |
| NM_020427.2:c.178+1G>A | NP_065160.1:n.178+1G>A | |
| NM_020427.3:c.178+1G>A MANE Select | NP_065160.1:n.178+1G>A |