Linked Data
ClinVar Variation Id:
551991
ClinVar RCV Id:
RCV000667174
dbSNP Id:
rs779358271
ExAC:
13:20763403 G / T
gnomAD v2:
13-20763403-G-T
gnomAD v3:
13-20189264-G-T
gnomAD v4:
13-20189264-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189264G>T , CM000675.2:g.20189264G>T | GRCh38 |
| NC_000013.10:g.20763403G>T , CM000675.1:g.20763403G>T | GRCh37 |
| NC_000013.9:g.19661403G>T | NCBI36 |
| NG_008358.1:g.8712C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.318C>A | ENSP00000372295.1:p.Phe106Leu | |
| ENST00000382848.5:c.318C>A MANE Select | ENSP00000372299.4:p.Phe106Leu | |
| ENST00000382844.1:c.318C>A | ENSP00000372295.1:p.Phe106Leu | |
| ENST00000382848.4:c.318C>A | ENSP00000372299.4:p.Phe106Leu | |
| NM_004004.5:c.318C>A | NP_003995.2:p.Phe106Leu | |
| XM_011535049.1:c.318C>A | XP_011533351.1:p.Phe106Leu | |
| XM_011535049.2:c.318C>A | XP_011533351.1:p.Phe106Leu | |
| NM_004004.6:c.318C>A MANE Select | NP_003995.2:p.Phe106Leu |