Linked Data
ClinVar Variation Id:
224975
ClinVar RCV Id:
RCV000210713
dbSNP Id:
rs869312990
PubMed:
PMID:12384776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087796G>A , CM000669.2:g.66087796G>A | GRCh38 |
| NC_000007.13:g.65552783G>A , CM000669.1:g.65552783G>A | GRCh37 |
| NC_000007.12:g.65190218G>A | NCBI36 |
| NG_009288.1:g.17008G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.718+5G>A MANE Select | ENSP00000307188.9:n.718+5G>A | |
| ENST00000362000.10:c.523+5G>A | ENSP00000354710.6:n.523+5G>A | |
| ENST00000380839.9:c.640+5G>A | ENSP00000370219.4:n.640+5G>A | |
| ENST00000395331.4:c.718+5G>A | ENSP00000378740.3:n.718+5G>A | |
| ENST00000395332.8:c.718+5G>A | ENSP00000378741.3:n.718+5G>A | |
| ENST00000671817.1:c.640+5G>A | ENSP00000500462.1:n.640+5G>A | |
| ENST00000672498.1:c.*17+5G>A | ENSP00000500227.1:n.*17+5G>A | |
| ENST00000672586.1:n.1477+5G>A | ||
| ENST00000672676.1:n.1742+5G>A | ||
| ENST00000673149.1:n.530+5G>A | ||
| ENST00000673350.1:n.1825G>A | ||
| ENST00000673518.1:c.640+5G>A | ENSP00000499889.1:n.640+5G>A | |
| ENST00000304874.13:c.718+5G>A | ENSP00000307188.9:n.718+5G>A | |
| ENST00000362000.9:c.523+5G>A | ENSP00000354710.5:n.523+5G>A | |
| ENST00000380839.8:c.640+5G>A | ENSP00000370219.4:n.640+5G>A | |
| ENST00000395331.3:c.718+5G>A | ENSP00000378740.3:n.718+5G>A | |
| ENST00000395332.7:c.718+5G>A | ENSP00000378741.3:n.718+5G>A | |
| ENST00000450043.2:c.31+5G>A | ENSP00000396527.2:n.31+5G>A | |
| ENST00000493708.5:n.99+5G>A | ||
| NM_000048.3:c.718+5G>A | NP_000039.2:n.718+5G>A | |
| NM_001024943.1:c.718+5G>A | NP_001020114.1:n.718+5G>A | |
| NM_001024944.1:c.718+5G>A | NP_001020115.1:n.718+5G>A | |
| NM_001024946.1:c.640+5G>A | NP_001020117.1:n.640+5G>A | |
| NM_000048.4:c.718+5G>A MANE Select | NP_000039.2:n.718+5G>A | |
| NM_001024943.2:c.718+5G>A | NP_001020114.1:n.718+5G>A | |
| NM_001024944.2:c.718+5G>A | NP_001020115.1:n.718+5G>A | |
| NM_001024946.2:c.640+5G>A | NP_001020117.1:n.640+5G>A |