Linked Data
ClinVar Variation Id:
371145
ClinVar RCV Id:
RCV000411573
dbSNP Id:
rs1057517041
PubMed:
PMID:9824293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993049T>A , CM000667.2:g.177993049T>A | GRCh38 |
| NC_000005.9:g.177420050T>A , CM000667.1:g.177420050T>A | GRCh37 |
| NC_000005.8:g.177352656T>A | NCBI36 |
| NG_015889.1:g.8194A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-2A>T MANE Select | ENSP00000311290.2:n.343-2A>T | |
| NM_006261.4:c.343-2A>T | NP_006252.3:n.343-2A>T | |
| NM_006261.5:c.343-2A>T MANE Select | NP_006252.4:n.343-2A>T |