Linked Data
ClinVar Variation Id:
1924123
ClinVar RCV Id:
RCV002634742
dbSNP Id:
rs80338941
ExAC:
13:20763665 C / A
gnomAD v2:
13-20763665-C-A
gnomAD v3:
13-20189526-C-A
gnomAD v4:
13-20189526-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189526C>A , CM000675.2:g.20189526C>A | GRCh38 |
| NC_000013.10:g.20763665C>A , CM000675.1:g.20763665C>A | GRCh37 |
| NC_000013.9:g.19661665C>A | NCBI36 |
| NG_008358.1:g.8450G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.56G>T | ENSP00000372295.1:p.Ser19Ile | |
| ENST00000382848.5:c.56G>T MANE Select | ENSP00000372299.4:p.Ser19Ile | |
| ENST00000382844.1:c.56G>T | ENSP00000372295.1:p.Ser19Ile | |
| ENST00000382848.4:c.56G>T | ENSP00000372299.4:p.Ser19Ile | |
| NM_004004.5:c.56G>T | NP_003995.2:p.Ser19Ile | |
| XM_011535049.1:c.56G>T | XP_011533351.1:p.Ser19Ile | |
| XM_011535049.2:c.56G>T | XP_011533351.1:p.Ser19Ile | |
| NM_004004.6:c.56G>T MANE Select | NP_003995.2:p.Ser19Ile |