Linked Data
ClinVar Variation Id:
11182
dbSNP Id:
rs132630259
gnomAD v4:
X-47628207-G-A
COSMIC:
COSM296671
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47628207G>A , CM000685.2:g.47628207G>A | GRCh38 |
| NC_000023.10:g.47487606G>A , CM000685.1:g.47487606G>A | GRCh37 |
| NC_000023.9:g.47372550G>A | NCBI36 |
| NG_009893.1:g.7099C>T , LRG_129:g.7099C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396992.8:c.298C>T MANE Select | ENSP00000380189.3:p.Arg100Trp | |
| ENST00000640573.1:n.536C>T | ||
| ENST00000247153.7:c.298C>T | ENSP00000247153.3:p.Arg100Trp | |
| ENST00000377005.6:c.298C>T | ENSP00000366204.2:p.Arg100Trp | |
| ENST00000396992.7:c.298C>T | ENSP00000380189.3:p.Arg100Trp | |
| ENST00000469388.1:c.-108C>T | ENSP00000418258.1:n.-108C>T | |
| ENST00000480317.1:n.484C>T | ||
| ENST00000485991.5:n.1595C>T | ||
| NM_001145252.1:c.298C>T | NP_001138724.1:p.Arg100Trp | |
| NM_002621.2:c.298C>T , LRG_129t1:c.298C>T | NP_002612.1:p.Arg100Trp | |
| XM_017029575.1:c.-108C>T | XP_016885064.1:n.-108C>T | |
| NM_001145252.3:c.298C>T MANE Select | NP_001138724.1:p.Arg100Trp |