Linked Data
ClinVar Variation Id:
11716
ClinVar RCV Id:
RCV002316191
dbSNP Id:
rs121917810
ExAC:
X:115303595 G / T
gnomAD v2:
X-115303595-G-T
gnomAD v3:
X-116172342-G-T
gnomAD v4:
X-116172342-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172342G>T , CM000685.2:g.116172342G>T | GRCh38 |
| NC_000023.10:g.115303595G>T , CM000685.1:g.115303595G>T | GRCh37 |
| NC_000023.9:g.115217623G>T | NCBI36 |
| NG_016326.1:g.6638G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371906.5:c.62G>T MANE Select | ENSP00000360973.4:p.Gly21Val | |
| ENST00000680409.1:n.530G>T | ||
| ENST00000681852.1:c.62G>T | ENSP00000505750.1:p.Gly21Val | |
| ENST00000371906.4:c.62G>T | ENSP00000360973.4:p.Gly21Val | |
| NM_000686.4:c.62G>T | NP_000677.2:p.Gly21Val | |
| XM_011537533.1:c.62G>T | XP_011535835.1:p.Gly21Val | |
| NM_000686.5:c.62G>T MANE Select | NP_000677.2:p.Gly21Val | |
| NM_001385624.1:c.62G>T | NP_001372553.1:p.Gly21Val |