Linked Data
ClinVar Variation Id:
7911
dbSNP Id:
rs61753033
ExAC:
1:94474323 A / G
gnomAD v2:
1-94474323-A-G
gnomAD v4:
1-94008767-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008767A>G , CM000663.2:g.94008767A>G | GRCh38 |
| NC_000001.10:g.94474323A>G , CM000663.1:g.94474323A>G | GRCh37 |
| NC_000001.9:g.94246911A>G | NCBI36 |
| NG_009073.1:g.117383T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5819T>C MANE Select | ENSP00000359245.3:p.Leu1940Pro | |
| ENST00000370225.3:c.5819T>C | ENSP00000359245.3:p.Leu1940Pro | |
| ENST00000465352.1:n.235T>C | ||
| ENST00000536513.5:c.2195T>C | ENSP00000439707.2:p.Leu732Pro | |
| NM_000350.2:c.5819T>C | NP_000341.2:p.Leu1940Pro | |
| NM_000350.3:c.5819T>C MANE Select | NP_000341.2:p.Leu1940Pro |