Linked Data
ClinVar Variation Id:
96691
ClinVar RCV Id:
RCV000082859
dbSNP Id:
rs398124637
gnomAD v4:
19-48965344-C-T
PubMed:
PMID:23421845
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965344C>T , CM000681.2:g.48965344C>T | GRCh38 |
| NC_000019.9:g.49468601C>T , CM000681.1:g.49468601C>T | GRCh37 |
| NC_000019.8:g.54160413C>T | NCBI36 |
| NG_008152.1:g.5036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-164C>T MANE Select | ENSP00000366525.2:n.-164C>T | |
| ENST00000331825.10:c.-164C>T | ENSP00000366525.2:n.-164C>T | |
| ENST00000622577.2:c.-164C>T | ENSP00000484043.1:n.-164C>T | |
| NM_000146.3:c.-164C>T | NP_000137.2:n.-164C>T | |
| XM_024451447.1:c.347C>T | XP_024307215.1:p.Ser116Leu | |
| NM_000146.4:c.-164C>T MANE Select | NP_000137.2:n.-164C>T |