Linked Data
ClinVar Variation Id:
1108750
ClinVar RCV Id:
RCV001434328
dbSNP Id:
rs104894412
gnomAD v4:
13-20189420-G-A
MyVariant Identifiers:
chr13:g.20763559G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189420G>A , CM000675.2:g.20189420G>A | GRCh38 |
| NC_000013.10:g.20763559G>A , CM000675.1:g.20763559G>A | GRCh37 |
| NC_000013.9:g.19661559G>A | NCBI36 |
| NG_008358.1:g.8556C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.162C>T | ENSP00000372295.1:p.Asn54= | |
| ENST00000382848.5:c.162C>T MANE Select | ENSP00000372299.4:p.Asn54= | |
| ENST00000382844.1:c.162C>T | ENSP00000372295.1:p.Asn54= | |
| ENST00000382848.4:c.162C>T | ENSP00000372299.4:p.Asn54= | |
| NM_004004.5:c.162C>T | NP_003995.2:p.Asn54= | |
| XM_011535049.1:c.162C>T | XP_011533351.1:p.Asn54= | |
| XM_011535049.2:c.162C>T | XP_011533351.1:p.Asn54= | |
| NM_004004.6:c.162C>T MANE Select | NP_003995.2:p.Asn54= |