Linked Data
ClinVar Variation Id:
375649
dbSNP Id:
rs768996179
ExAC:
4:41266126 G / A
gnomAD v2:
4-41266126-G-A
gnomAD v4:
4-41264109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41264109G>A , CM000666.2:g.41264109G>A | GRCh38 |
| NC_000004.11:g.41266126G>A , CM000666.1:g.41266126G>A | GRCh37 |
| NC_000004.10:g.40960883G>A | NCBI36 |
| NG_012931.1:g.12229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284440.9:c.533G>A MANE Select | ENSP00000284440.4:p.Arg178Gln | |
| ENST00000284440.8:c.533G>A | ENSP00000284440.4:p.Arg178Gln | |
| ENST00000381760.8:n.1084G>A | ||
| ENST00000472501.5:n.1057G>A | ||
| ENST00000503431.5:c.533G>A | ENSP00000422542.1:p.Arg178Gln | |
| ENST00000505232.5:c.*58G>A | ENSP00000423348.1:n.*58G>A | |
| ENST00000508768.5:c.485G>A | ENSP00000426895.1:p.Arg162Gln | |
| ENST00000510566.1:n.184G>A | ||
| ENST00000512419.5:c.*322G>A | ENSP00000425714.1:n.*322G>A | |
| ENST00000512788.1:c.533G>A | ENSP00000423623.1:p.Arg178Gln | |
| ENST00000514764.5:n.367G>A | ||
| NM_004181.4:c.533G>A | NP_004172.2:p.Arg178Gln | |
| NM_004181.5:c.533G>A MANE Select | NP_004172.2:p.Arg178Gln |