Linked Data
ClinVar Variation Id:
11719
ClinVar RCV Id:
RCV000088655
dbSNP Id:
rs121917811
ExAC:
X:115304542 A / G
gnomAD v2:
X-115304542-A-G
gnomAD v3:
X-116173289-A-G
gnomAD v4:
X-116173289-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173289A>G , CM000685.2:g.116173289A>G | GRCh38 |
| NC_000023.10:g.115304542A>G , CM000685.1:g.115304542A>G | GRCh37 |
| NC_000023.9:g.115218570A>G | NCBI36 |
| NG_016326.1:g.7585A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371906.5:c.1009A>G MANE Select | ENSP00000360973.4:p.Ile337Val | |
| ENST00000680409.1:n.1477A>G | ||
| ENST00000681852.1:c.1009A>G | ENSP00000505750.1:p.Ile337Val | |
| ENST00000371906.4:c.1009A>G | ENSP00000360973.4:p.Ile337Val | |
| NM_000686.4:c.1009A>G | NP_000677.2:p.Ile337Val | |
| XM_011537533.1:c.1009A>G | XP_011535835.1:p.Ile337Val | |
| NM_000686.5:c.1009A>G MANE Select | NP_000677.2:p.Ile337Val | |
| NM_001385624.1:c.1009A>G | NP_001372553.1:p.Ile337Val |