Linked Data
ClinVar Variation Id:
1878949
ClinVar RCV Id:
RCV002511450
dbSNP Id:
rs367567291
ExAC:
13:20763734 C / T
gnomAD v2:
13-20763734-C-T
gnomAD v3:
13-20189595-C-T
gnomAD v4:
13-20189595-C-T
MyVariant Identifiers:
chr13:g.20763734C>T (hg19)
chr13:g.20763734_20763735delinsTG (hg19)
chr13:g.20189595C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189595C>T , CM000675.2:g.20189595C>T | GRCh38 |
| NC_000013.10:g.20763734C>T , CM000675.1:g.20763734C>T | GRCh37 |
| NC_000013.9:g.19661734C>T | NCBI36 |
| NG_008358.1:g.8381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-14G>A | ENSP00000372295.1:n.-14G>A | |
| ENST00000382848.5:c.-14G>A MANE Select | ENSP00000372299.4:n.-14G>A | |
| ENST00000382844.1:c.-14G>A | ENSP00000372295.1:n.-14G>A | |
| ENST00000382848.4:c.-14G>A | ENSP00000372299.4:n.-14G>A | |
| NM_004004.5:c.-14G>A | NP_003995.2:n.-14G>A | |
| XM_011535049.1:c.-14G>A | XP_011533351.1:n.-14G>A | |
| XM_011535049.2:c.-14G>A | XP_011533351.1:n.-14G>A | |
| NM_004004.6:c.-14G>A MANE Select | NP_003995.2:n.-14G>A |