Linked Data
ClinVar Variation Id:
97121
ClinVar RCV Id:
RCV000083350
dbSNP Id:
rs72554318
PubMed:
PMID:10946359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367369A>T , CM000685.2:g.38367369A>T | GRCh38 |
| NC_000023.10:g.38226622A>T , CM000685.1:g.38226622A>T | GRCh37 |
| NC_000023.9:g.38111566A>T | NCBI36 |
| NG_008471.1:g.19887A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.156A>T MANE Select | ENSP00000039007.4:p.Glu52Asp | |
| ENST00000643344.1:c.156A>T | ENSP00000496606.1:p.Glu52Asp | |
| ENST00000039007.4:c.156A>T | ENSP00000039007.4:p.Glu52Asp | |
| ENST00000465127.1:c.172-298752A>T | ENSP00000417050.1:n.172-298752A>T | |
| ENST00000488812.1:n.248A>T | ||
| NM_000531.5:c.156A>T | NP_000522.3:p.Glu52Asp | |
| XM_017029556.1:c.156A>T | XP_016885045.1:p.Glu52Asp | |
| NM_000531.6:c.156A>T MANE Select | NP_000522.3:p.Glu52Asp |