Linked Data
ClinVar Variation Id:
10949
ClinVar RCV Id:
RCV000011696
dbSNP Id:
rs104894890
PubMed:
PMID:7990958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308517G>A , CM000685.2:g.30308517G>A | GRCh38 |
| NC_000023.10:g.30326634G>A , CM000685.1:g.30326634G>A | GRCh37 |
| NC_000023.9:g.30236555G>A | NCBI36 |
| NG_009814.1:g.5862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.847C>T MANE Select | ENSP00000368253.4:p.Gln283Ter | |
| ENST00000378970.4:c.847C>T | ENSP00000368253.4:p.Gln283Ter | |
| NM_000475.4:c.847C>T | NP_000466.2:p.Gln283Ter | |
| NM_000475.5:c.847C>T MANE Select | NP_000466.2:p.Gln283Ter |