Linked Data
ClinVar Variation Id:
447444
dbSNP Id:
rs528216023
ExAC:
13:20763363 C / T
gnomAD v2:
13-20763363-C-T
gnomAD v3:
13-20189224-C-T
gnomAD v4:
13-20189224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189224C>T , CM000675.2:g.20189224C>T | GRCh38 |
| NC_000013.10:g.20763363C>T , CM000675.1:g.20763363C>T | GRCh37 |
| NC_000013.9:g.19661363C>T | NCBI36 |
| NG_008358.1:g.8752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.358G>A | ENSP00000372295.1:p.Glu120Lys | |
| ENST00000382848.5:c.358G>A MANE Select | ENSP00000372299.4:p.Glu120Lys | |
| ENST00000382844.1:c.358G>A | ENSP00000372295.1:p.Glu120Lys | |
| ENST00000382848.4:c.358G>A | ENSP00000372299.4:p.Glu120Lys | |
| NM_004004.5:c.358G>A | NP_003995.2:p.Glu120Lys | |
| XM_011535049.1:c.358G>A | XP_011533351.1:p.Glu120Lys | |
| XM_011535049.2:c.358G>A | XP_011533351.1:p.Glu120Lys | |
| NM_004004.6:c.358G>A MANE Select | NP_003995.2:p.Glu120Lys |