Linked Data
ClinVar Variation Id:
39491
ClinVar RCV Id:
RCV000032687
dbSNP Id:
rs587776920
PubMed:
PMID:23261301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484469T>A , CM000664.2:g.232484469T>A | GRCh38 |
| NC_000002.11:g.233349179T>A , CM000664.1:g.233349179T>A | GRCh37 |
| NC_000002.10:g.233057423T>A | NCBI36 |
| NG_034065.1:g.8391A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304546.6:c.1184+3A>T MANE Select | ENSP00000302051.1:n.1184+3A>T | |
| ENST00000304546.5:c.1184+3A>T | ENSP00000302051.1:n.1184+3A>T | |
| ENST00000409941.1:c.1184+3A>T | ENSP00000386333.1:n.1184+3A>T | |
| ENST00000482346.1:n.1495+3A>T | ||
| NM_001290787.1:c.1184+3A>T | NP_001277716.1:n.1184+3A>T | |
| NM_004826.3:c.1184+3A>T | NP_004817.2:n.1184+3A>T | |
| NM_004826.4:c.1184+3A>T MANE Select | NP_004817.2:n.1184+3A>T | |
| NM_001290787.2:c.1184+3A>T | NP_001277716.1:n.1184+3A>T |