Linked Data
ClinVar Variation Id:
66180
ClinVar RCV Id:
RCV000056505
dbSNP Id:
rs267607413
gnomAD v4:
17-41620728-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41620728A>G , CM000679.2:g.41620728A>G | GRCh38 |
| NC_000017.10:g.39776980A>G , CM000679.1:g.39776980A>G | GRCh37 |
| NC_000017.9:g.37030506A>G | NCBI36 |
| NG_008625.1:g.8903T>C | |
| NG_009090.2:g.170985T>C , LRG_401:g.170985T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.1112T>C MANE Select | ENSP00000308452.8:p.Leu371Pro | |
| ENST00000648859.1:c.102T>C | ||
| ENST00000649249.1:n.388T>C | ||
| ENST00000311208.12:c.1112T>C | ENSP00000308452.8:p.Leu371Pro | |
| ENST00000493253.5:n.1499T>C | ||
| ENST00000540235.5:c.863T>C | ENSP00000441751.2:p.Leu288Pro | |
| NM_000422.2:c.1112T>C | NP_000413.1:p.Leu371Pro | |
| NM_000422.3:c.1112T>C MANE Select | NP_000413.1:p.Leu371Pro |