Linked Data
ClinVar Variation Id:
3106094
ClinVar RCV Id:
RCV004399484
dbSNP Id:
rs373548947
ExAC:
1:145416518 G / A
gnomAD v2:
1-145416518-G-A
gnomAD v3:
1-146018495-C-T
gnomAD v4:
1-146018495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018495C>T , CM000663.2:g.146018495C>T | GRCh38 |
| NC_000001.10:g.145416518G>A , CM000663.1:g.145416518G>A | GRCh37 |
| NC_000001.9:g.144127875G>A | NCBI36 |
| NG_011568.1:g.8328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.863G>A MANE Select | ENSP00000337014.5:p.Arg288Gln | |
| ENST00000636675.1:c.185G>A | ENSP00000490072.1:p.Arg62Gln | |
| ENST00000336751.10:c.863G>A | ENSP00000337014.5:p.Arg288Gln | |
| ENST00000357836.5:c.524G>A | ENSP00000350495.5:p.Arg175Gln | |
| ENST00000475797.1:c.185G>A | ENSP00000425716.1:p.Arg62Gln | |
| ENST00000497365.5:c.185G>A | ENSP00000421820.1:p.Arg62Gln | |
| NM_001316767.1:c.185G>A | NP_001303696.1:p.Arg62Gln | |
| NM_145277.4:c.524G>A | NP_660320.3:p.Arg175Gln | |
| NM_202004.3:c.185G>A | NP_973733.1:p.Arg62Gln | |
| NM_213652.3:c.185G>A | NP_998817.1:p.Arg62Gln | |
| NM_213653.3:c.863G>A | NP_998818.1:p.Arg288Gln | |
| XM_005272932.1:c.863G>A | XP_005272989.1:p.Arg288Gln | |
| NM_001316767.2:c.185G>A | NP_001303696.1:p.Arg62Gln | |
| NM_145277.5:c.524G>A | NP_660320.3:p.Arg175Gln | |
| NM_202004.4:c.185G>A | NP_973733.1:p.Arg62Gln | |
| NM_213652.4:c.185G>A | NP_998817.1:p.Arg62Gln | |
| NM_001379352.1:c.863G>A | NP_001366281.1:p.Arg288Gln | |
| NM_213653.4:c.863G>A MANE Select | NP_998818.1:p.Arg288Gln |