Linked Data
ClinVar Variation Id:
2539549
ClinVar RCV Id:
RCV004313613
dbSNP Id:
rs782469613
ExAC:
1:145416833 A / G
gnomAD v2:
1-145416833-A-G
gnomAD v3:
1-146018180-T-C
gnomAD v4:
1-146018180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018180T>C , CM000663.2:g.146018180T>C | GRCh38 |
| NC_000001.10:g.145416833A>G , CM000663.1:g.145416833A>G | GRCh37 |
| NC_000001.9:g.144128190A>G | NCBI36 |
| NG_011568.1:g.8643A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.1178A>G MANE Select | ENSP00000337014.5:p.Lys393Arg | |
| ENST00000636675.1:c.500A>G | ENSP00000490072.1:p.Lys167Arg | |
| ENST00000336751.10:c.1178A>G | ENSP00000337014.5:p.Lys393Arg | |
| ENST00000357836.5:c.839A>G | ENSP00000350495.5:p.Lys280Arg | |
| ENST00000475797.1:c.500A>G | ENSP00000425716.1:p.Lys167Arg | |
| ENST00000497365.5:c.500A>G | ENSP00000421820.1:p.Lys167Arg | |
| NM_001316767.1:c.500A>G | NP_001303696.1:p.Lys167Arg | |
| NM_145277.4:c.839A>G | NP_660320.3:p.Lys280Arg | |
| NM_202004.3:c.500A>G | NP_973733.1:p.Lys167Arg | |
| NM_213652.3:c.500A>G | NP_998817.1:p.Lys167Arg | |
| NM_213653.3:c.1178A>G | NP_998818.1:p.Lys393Arg | |
| XM_005272932.1:c.1178A>G | XP_005272989.1:p.Lys393Arg | |
| NM_001316767.2:c.500A>G | NP_001303696.1:p.Lys167Arg | |
| NM_145277.5:c.839A>G | NP_660320.3:p.Lys280Arg | |
| NM_202004.4:c.500A>G | NP_973733.1:p.Lys167Arg | |
| NM_213652.4:c.500A>G | NP_998817.1:p.Lys167Arg | |
| NM_001379352.1:c.1178A>G | NP_001366281.1:p.Lys393Arg | |
| NM_213653.4:c.1178A>G MANE Select | NP_998818.1:p.Lys393Arg |