Linked Data
ClinVar Variation Id:
7773
ClinVar RCV Id:
RCV000008215
dbSNP Id:
rs104894616
PubMed:
PMID:9354782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576171T>A , CM000679.2:g.35576171T>A | GRCh38 |
| NC_000017.10:g.33903190T>A , CM000679.1:g.33903190T>A | GRCh37 |
| NC_000017.9:g.30927303T>A | NCBI36 |
| NG_008447.1:g.7467A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.691A>T MANE Select | ENSP00000225873.3:p.Lys231Ter | |
| ENST00000586663.2:c.691A>T | ENSP00000466894.2:p.Lys231Ter | |
| ENST00000225873.8:c.691A>T | ENSP00000225873.3:p.Lys231Ter | |
| ENST00000586663.1:c.691A>T | ENSP00000466894.1:p.Lys231Ter | |
| ENST00000613219.4:c.691A>T | ENSP00000482609.1:p.Lys231Ter | |
| NM_000286.2:c.691A>T | NP_000277.1:p.Lys231Ter | |
| NM_000286.3:c.691A>T MANE Select | NP_000277.1:p.Lys231Ter |