Linked Data
ClinVar Variation Id:
97126
ClinVar RCV Id:
RCV000083355
dbSNP Id:
rs72554321
PubMed:
PMID:16786505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367383T>A , CM000685.2:g.38367383T>A | GRCh38 |
| NC_000023.10:g.38226636T>A , CM000685.1:g.38226636T>A | GRCh37 |
| NC_000023.9:g.38111580T>A | NCBI36 |
| NG_008471.1:g.19901T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.170T>A MANE Select | ENSP00000039007.4:p.Leu57Gln | |
| ENST00000643344.1:c.170T>A | ENSP00000496606.1:p.Leu57Gln | |
| ENST00000039007.4:c.170T>A | ENSP00000039007.4:p.Leu57Gln | |
| ENST00000465127.1:c.172-298738T>A | ENSP00000417050.1:n.172-298738T>A | |
| ENST00000488812.1:n.262T>A | ||
| NM_000531.5:c.170T>A | NP_000522.3:p.Leu57Gln | |
| XM_017029556.1:c.170T>A | XP_016885045.1:p.Leu57Gln | |
| NM_000531.6:c.170T>A MANE Select | NP_000522.3:p.Leu57Gln |