Linked Data
ClinVar Variation Id:
224597
ClinVar RCV Id:
RCV000210215
dbSNP Id:
rs766076524
ExAC:
5:483385 C / T
gnomAD v2:
5-483385-C-T
gnomAD v3:
5-483270-C-T
gnomAD v4:
5-483270-C-T
PubMed:
PMID:26358773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.483270C>T , CM000667.2:g.483270C>T | GRCh38 |
| NC_000005.9:g.483385C>T , CM000667.1:g.483385C>T | GRCh37 |
| NC_000005.8:g.536385C>T | NCBI36 |
| NG_046804.1:g.92159G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264938.8:c.1145G>A MANE Select | ENSP00000264938.3:p.Arg382Gln | |
| ENST00000644203.1:c.1145G>A | ENSP00000495903.1:p.Arg382Gln | |
| ENST00000264938.7:c.1145G>A | ENSP00000264938.3:p.Arg382Gln | |
| ENST00000514375.1:c.1145G>A | ENSP00000422983.1:p.Arg382Gln | |
| NM_001284351.1:c.1145G>A | NP_001271280.1:p.Arg382Gln | |
| NM_004174.2:c.1145G>A | NP_004165.2:p.Arg382Gln | |
| XM_011514095.1:c.1151G>A | XP_011512397.1:p.Arg384Gln | |
| XM_011514096.1:c.1145G>A | XP_011512398.1:p.Arg382Gln | |
| XM_011514097.1:c.1151G>A | XP_011512399.1:p.Arg384Gln | |
| XM_011514098.1:c.1151G>A | XP_011512400.1:p.Arg384Gln | |
| NM_001284351.2:c.1145G>A | NP_001271280.1:p.Arg382Gln | |
| NM_004174.3:c.1145G>A | NP_004165.2:p.Arg382Gln | |
| NM_001284351.3:c.1145G>A | NP_001271280.1:p.Arg382Gln | |
| NM_004174.4:c.1145G>A MANE Select | NP_004165.2:p.Arg382Gln |