Linked Data
ClinVar Variation Id:
427
ClinVar RCV Id:
RCV000000455
dbSNP Id:
rs137853195
PubMed:
PMID:19465910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225406A>G , CM000668.2:g.3225406A>G | GRCh38 |
| NC_000006.11:g.3225640A>G , CM000668.1:g.3225640A>G | GRCh37 |
| NC_000006.10:g.3170639A>G | NCBI36 |
| NG_016715.1:g.7329T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259818.8:c.683T>C MANE Select | ENSP00000259818.6:p.Leu228Pro | |
| ENST00000680070.1:n.1613T>C | ||
| ENST00000681707.1:n.1510T>C | ||
| ENST00000681757.1:n.988T>C | ||
| ENST00000259818.7:c.683T>C | ENSP00000259818.6:p.Leu228Pro | |
| ENST00000473006.1:n.800T>C | ||
| NM_178012.4:c.683T>C | NP_821080.1:p.Leu228Pro | |
| XM_011514571.1:c.467T>C | XP_011512873.1:p.Leu156Pro | |
| NM_178012.5:c.683T>C MANE Select | NP_821080.1:p.Leu228Pro |