Linked Data
ClinVar Variation Id:
180213
ClinVar RCV Id:
RCV000157066
dbSNP Id:
rs727505395
PubMed:
PMID:18724368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49878940C>T , CM000680.2:g.49878940C>T | GRCh38 |
| NC_000018.9:g.47405310C>T , CM000680.1:g.47405310C>T | GRCh37 |
| NC_000018.8:g.45659308C>T | NCBI36 |
| NG_012925.1:g.321142G>A | |
| NG_012925.2:g.321142G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697218.1:n.35G>A | ||
| ENST00000697219.1:c.3073+5G>A | ||
| ENST00000285039.12:c.3276+5G>A MANE Select | ENSP00000285039.6:n.3276+5G>A | |
| ENST00000285039.11:c.3276+5G>A | ENSP00000285039.6:n.3276+5G>A | |
| ENST00000324581.10:c.705+5G>A | ENSP00000315531.7:n.705+5G>A | |
| ENST00000589568.1:n.477+5G>A | ||
| ENST00000616031.4:c.1907-42207G>A | ENSP00000479038.1:n.1907-42207G>A | |
| NM_001080467.2:c.3276+5G>A | NP_001073936.1:n.3276+5G>A | |
| NM_001080467.3:c.3276+5G>A MANE Select | NP_001073936.1:n.3276+5G>A |