Linked Data
ClinVar Variation Id:
492467
ClinVar RCV Id:
RCV003226953
dbSNP Id:
rs1555686626
gnomAD v4:
18-51067191-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067191A>T , CM000680.2:g.51067191A>T | GRCh38 |
| NC_000018.9:g.48593561A>T , CM000680.1:g.48593561A>T | GRCh37 |
| NC_000018.8:g.46847559A>T | NCBI36 |
| NG_013013.2:g.104152A>T , LRG_318:g.104152A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588860.6:c.1308+4A>T | ENSP00000465878.2:n.1308+4A>T | |
| ENST00000589076.6:c.1308+4A>T | ENSP00000466934.2:n.1308+4A>T | |
| ENST00000589941.2:c.1308+4A>T | ENSP00000465874.2:n.1308+4A>T | |
| ENST00000590061.2:c.1308+4A>T | ENSP00000464772.2:n.1308+4A>T | |
| ENST00000593223.2:c.1308+4A>T | ENSP00000466118.2:n.1308+4A>T | |
| ENST00000611848.2:c.1308+4A>T | ENSP00000478613.2:n.1308+4A>T | |
| ENST00000684953.1:n.2680+4A>T | ||
| ENST00000685090.1:n.1759+4A>T | ||
| ENST00000685232.1:n.1416+4A>T | ||
| ENST00000688574.1:n.1416+4A>T | ||
| ENST00000691124.1:n.2790+4A>T | ||
| ENST00000342988.8:c.1308+4A>T MANE Select | ENSP00000341551.3:n.1308+4A>T | |
| ENST00000342988.7:c.1308+4A>T | ENSP00000341551.3:n.1308+4A>T | |
| ENST00000398417.6:c.1308+4A>T | ENSP00000381452.1:n.1308+4A>T | |
| ENST00000588745.5:c.1020+4A>T | ENSP00000464901.1:n.1020+4A>T | |
| ENST00000590499.1:n.366+4A>T | ||
| ENST00000591126.5:n.3309+4A>T | ||
| ENST00000592186.5:c.955+7275A>T | ENSP00000468611.1:n.955+7275A>T | |
| ENST00000593223.1:c.75+4A>T | ENSP00000466118.1:n.75+4A>T | |
| ENST00000611848.1:c.508+4A>T | ||
| NM_005359.5:c.1308+4A>T , LRG_318t1:c.1308+4A>T | NP_005350.1:n.1308+4A>T | |
| NM_005359.6:c.1308+4A>T MANE Select | NP_005350.1:n.1308+4A>T |