Linked Data
ClinVar Variation Id:
995160
ClinVar RCV Id:
RCV001289058
dbSNP Id:
rs1957808858
gnomAD v4:
13-27924323-G-T
MyVariant Identifiers:
chr13:g.28498460G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924323G>T , CM000675.2:g.27924323G>T | GRCh38 |
| NC_000013.10:g.28498460G>T , CM000675.1:g.28498460G>T | GRCh37 |
| NC_000013.9:g.27396460G>T | NCBI36 |
| NG_008183.1:g.9293G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.474G>T MANE Select | ENSP00000370421.4:p.Leu158= | |
| ENST00000381033.4:c.474G>T | ENSP00000370421.4:p.Leu158= | |
| NM_000209.3:c.474G>T | NP_000200.1:p.Leu158= | |
| XR_941580.1:n.1116G>T | ||
| XR_941580.2:n.1128G>T | ||
| NM_000209.4:c.474G>T MANE Select | NP_000200.1:p.Leu158= |