Linked Data
ClinVar Variation Id:
56053
ClinVar RCV Id:
RCV000049462
dbSNP Id:
rs386833534
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6565353C>T , CM000671.2:g.6565353C>T | GRCh38 |
| NC_000009.11:g.6565353C>T , CM000671.1:g.6565353C>T | GRCh37 |
| NC_000009.10:g.6555353C>T | NCBI36 |
| NG_016397.1:g.85340G>A , LRG_643:g.85340G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321612.8:c.1926+1G>A MANE Select | ENSP00000370737.4:n.1926+1G>A | |
| ENST00000460457.2:n.86+1G>A | ||
| ENST00000638233.1:n.361+1G>A | ||
| ENST00000638661.1:c.126+1G>A | ENSP00000491369.1:n.126+1G>A | |
| ENST00000638694.1:n.113+1G>A | ||
| ENST00000639318.1:c.126+1G>A | ENSP00000491932.1:n.126+1G>A | |
| ENST00000639364.1:n.1626+1G>A | ||
| ENST00000639443.1:n.1494+1G>A | ||
| ENST00000639954.1:n.1634+1G>A | ||
| ENST00000640208.1:c.126+1G>A | ENSP00000491895.1:n.126+1G>A | |
| ENST00000640505.1:n.165+1G>A | ||
| ENST00000640592.1:n.1809+1G>A | ||
| ENST00000321612.6:c.1926+1G>A | ENSP00000370737.3:n.1926+1G>A | |
| ENST00000460457.1:n.65+1G>A | ||
| NM_000170.2:c.1926+1G>A , LRG_643t1:c.1926+1G>A | NP_000161.2:n.1926+1G>A | |
| NM_000170.3:c.1926+1G>A MANE Select | NP_000161.2:n.1926+1G>A |