Linked Data
ClinVar Variation Id:
10975
ClinVar RCV Id:
RCV000011722
dbSNP Id:
rs104894906
PubMed:
PMID:12629128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304795G>T , CM000685.2:g.30304795G>T | GRCh38 |
| NC_000023.10:g.30322912G>T , CM000685.1:g.30322912G>T | GRCh37 |
| NC_000023.9:g.30232833G>T | NCBI36 |
| NG_009814.1:g.9584C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.1197C>A MANE Select | ENSP00000368253.4:p.Tyr399Ter | |
| ENST00000378970.4:c.1197C>A | ENSP00000368253.4:p.Tyr399Ter | |
| NM_000475.4:c.1197C>A | NP_000466.2:p.Tyr399Ter | |
| NM_000475.5:c.1197C>A MANE Select | NP_000466.2:p.Tyr399Ter |