Linked Data
ClinVar Variation Id:
263943
dbSNP Id:
rs144190443
ExAC:
20:10625569 G / A
gnomAD v2:
20-10625569-G-A
gnomAD v3:
20-10644921-G-A
gnomAD v4:
20-10644921-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644921G>A , CM000682.2:g.10644921G>A | GRCh38 |
| NC_000020.10:g.10625569G>A , CM000682.1:g.10625569G>A | GRCh37 |
| NC_000020.9:g.10573569G>A | NCBI36 |
| NG_007496.1:g.34126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2286C>T MANE Select | ENSP00000254958.4:p.Asn762= | |
| ENST00000617965.2:n.2875C>T | ||
| ENST00000254958.9:c.2286C>T | ENSP00000254958.4:p.Asn762= | |
| ENST00000423891.6:n.2152C>T | ||
| ENST00000488480.2:n.683C>T | ||
| NM_000214.2:c.2286C>T | NP_000205.1:p.Asn762= | |
| NM_000214.3:c.2286C>T MANE Select | NP_000205.1:p.Asn762= |