Linked Data
ClinVar Variation Id:
208074
ClinVar RCV Id:
RCV000190336
dbSNP Id:
rs869320673
PubMed:
PMID:26073777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57260016T>A , CM000665.2:g.57260016T>A | GRCh38 |
| NC_000003.11:g.57294044T>A , CM000665.1:g.57294044T>A | GRCh37 |
| NC_000003.10:g.57269084T>A | NCBI36 |
| NG_047003.1:g.37280T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288266.8:c.1655T>A MANE Select | ENSP00000288266.3:p.Leu552Ter | |
| ENST00000650354.1:c.1655T>A | ENSP00000498115.1:p.Leu552Ter | |
| ENST00000288266.7:c.1655T>A | ENSP00000288266.3:p.Leu552Ter | |
| ENST00000464446.5:n.560T>A | ||
| ENST00000482800.5:n.1750T>A | ||
| ENST00000488530.1:n.490T>A | ||
| ENST00000492501.1:n.224T>A | ||
| NM_012096.2:c.1655T>A | NP_036228.1:p.Leu552Ter | |
| XM_011533583.1:c.1604T>A | XP_011531885.1:p.Leu535Ter | |
| XM_011533583.3:c.1604T>A | XP_011531885.1:p.Leu535Ter | |
| NM_012096.3:c.1655T>A MANE Select | NP_036228.1:p.Leu552Ter |