Linked Data
ClinVar Variation Id:
10976
ClinVar RCV Id:
RCV000011723
dbSNP Id:
rs104894907
PubMed:
PMID:12629128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308474A>G , CM000685.2:g.30308474A>G | GRCh38 |
| NC_000023.10:g.30326591A>G , CM000685.1:g.30326591A>G | GRCh37 |
| NC_000023.9:g.30236512A>G | NCBI36 |
| NG_009814.1:g.5905T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378970.5:c.890T>C MANE Select | ENSP00000368253.4:p.Leu297Pro | |
| ENST00000378963.1:c.5T>C | ENSP00000368246.1:p.Leu2Pro | |
| ENST00000378970.4:c.890T>C | ENSP00000368253.4:p.Leu297Pro | |
| NM_000475.4:c.890T>C | NP_000466.2:p.Leu297Pro | |
| NM_000475.5:c.890T>C MANE Select | NP_000466.2:p.Leu297Pro |