Linked Data
ClinVar Variation Id:
417990
ClinVar RCV Id:
RCV000483648
dbSNP Id:
rs1064793012
gnomAD v4:
1-94031857-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031857A>G , CM000663.2:g.94031857A>G | GRCh38 |
| NC_000001.10:g.94497413A>G , CM000663.1:g.94497413A>G | GRCh37 |
| NC_000001.9:g.94270001A>G | NCBI36 |
| NG_009073.1:g.94293T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.4049T>C MANE Select | ENSP00000359245.3:p.Leu1350Pro | |
| ENST00000370225.3:c.4049T>C | ENSP00000359245.3:p.Leu1350Pro | |
| ENST00000536513.5:c.425T>C | ENSP00000439707.2:p.Leu142Pro | |
| NM_000350.2:c.4049T>C | NP_000341.2:p.Leu1350Pro | |
| NM_000350.3:c.4049T>C MANE Select | NP_000341.2:p.Leu1350Pro |