Linked Data
ClinVar Variation Id:
10973
ClinVar RCV Id:
RCV000011720
dbSNP Id:
rs104894900
PubMed:
PMID:11788621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308226A>C , CM000685.2:g.30308226A>C | GRCh38 |
| NC_000023.10:g.30326343A>C , CM000685.1:g.30326343A>C | GRCh37 |
| NC_000023.9:g.30236264A>C | NCBI36 |
| NG_009814.1:g.6153T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.1138T>G MANE Select | ENSP00000368253.4:p.Tyr380Asp | |
| ENST00000378963.1:c.253T>G | ENSP00000368246.1:p.Tyr85Asp | |
| ENST00000378970.4:c.1138T>G | ENSP00000368253.4:p.Tyr380Asp | |
| NM_000475.4:c.1138T>G | NP_000466.2:p.Tyr380Asp | |
| NM_000475.5:c.1138T>G MANE Select | NP_000466.2:p.Tyr380Asp |