Linked Data
ClinVar Variation Id:
10951
ClinVar RCV Id:
RCV000011698
dbSNP Id:
rs104894887
PubMed:
PMID:7990958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308576A>T , CM000685.2:g.30308576A>T | GRCh38 |
| NC_000023.10:g.30326693A>T , CM000685.1:g.30326693A>T | GRCh37 |
| NC_000023.9:g.30236614A>T | NCBI36 |
| NG_009814.1:g.5803T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.788T>A MANE Select | ENSP00000368253.4:p.Leu263Ter | |
| ENST00000378970.4:c.788T>A | ENSP00000368253.4:p.Leu263Ter | |
| NM_000475.4:c.788T>A | NP_000466.2:p.Leu263Ter | |
| NM_000475.5:c.788T>A MANE Select | NP_000466.2:p.Leu263Ter |