Linked Data
ClinVar Variation Id:
1671267
ClinVar RCV Id:
RCV002196638
dbSNP Id:
rs755058488
ExAC:
13:20763325 C / T
gnomAD v2:
13-20763325-C-T
gnomAD v3:
13-20189186-C-T
gnomAD v4:
13-20189186-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189186C>T , CM000675.2:g.20189186C>T | GRCh38 |
| NC_000013.10:g.20763325C>T , CM000675.1:g.20763325C>T | GRCh37 |
| NC_000013.9:g.19661325C>T | NCBI36 |
| NG_008358.1:g.8790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.396G>A | ENSP00000372295.1:p.Leu132= | |
| ENST00000382848.5:c.396G>A MANE Select | ENSP00000372299.4:p.Leu132= | |
| ENST00000382844.1:c.396G>A | ENSP00000372295.1:p.Leu132= | |
| ENST00000382848.4:c.396G>A | ENSP00000372299.4:p.Leu132= | |
| NM_004004.5:c.396G>A | NP_003995.2:p.Leu132= | |
| XM_011535049.1:c.396G>A | XP_011533351.1:p.Leu132= | |
| XM_011535049.2:c.396G>A | XP_011533351.1:p.Leu132= | |
| NM_004004.6:c.396G>A MANE Select | NP_003995.2:p.Leu132= |