Linked Data
ClinVar Variation Id:
499593
dbSNP Id:
rs747532570
ExAC:
20:10624433 G / A
gnomAD v2:
20-10624433-G-A
gnomAD v3:
20-10643785-G-A
gnomAD v4:
20-10643785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643785G>A , CM000682.2:g.10643785G>A | GRCh38 |
| NC_000020.10:g.10624433G>A , CM000682.1:g.10624433G>A | GRCh37 |
| NC_000020.9:g.10572433G>A | NCBI36 |
| NG_007496.1:g.35262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2451C>T MANE Select | ENSP00000254958.4:p.Cys817= | |
| ENST00000617965.2:n.3040C>T | ||
| ENST00000254958.9:c.2451C>T | ENSP00000254958.4:p.Cys817= | |
| ENST00000423891.6:n.2317C>T | ||
| NM_000214.2:c.2451C>T | NP_000205.1:p.Cys817= | |
| NM_000214.3:c.2451C>T MANE Select | NP_000205.1:p.Cys817= |