Linked Data
ClinVar Variation Id:
284551
dbSNP Id:
rs374629171
ExAC:
20:10629302 G / A
gnomAD v2:
20-10629302-G-A
gnomAD v3:
20-10648654-G-A
gnomAD v4:
20-10648654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10648654G>A , CM000682.2:g.10648654G>A | GRCh38 |
| NC_000020.10:g.10629302G>A , CM000682.1:g.10629302G>A | GRCh37 |
| NC_000020.9:g.10577302G>A | NCBI36 |
| NG_007496.1:g.30393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1464C>T MANE Select | ENSP00000254958.4:p.Ile488= | |
| ENST00000617965.2:n.2053C>T | ||
| ENST00000254958.9:c.1464C>T | ENSP00000254958.4:p.Ile488= | |
| ENST00000423891.6:n.1330C>T | ||
| ENST00000620743.1:n.521C>T | ||
| ENST00000622545.1:c.195C>T | ||
| NM_000214.2:c.1464C>T | NP_000205.1:p.Ile488= | |
| NM_000214.3:c.1464C>T MANE Select | NP_000205.1:p.Ile488= |