Linked Data
ClinVar Variation Id:
1399615
ClinVar RCV Id:
RCV001922841
dbSNP Id:
rs764592263
ExAC:
20:23028727 A / G
gnomAD v2:
20-23028727-A-G
gnomAD v4:
20-23048090-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048090A>G , CM000682.2:g.23048090A>G | GRCh38 |
| NC_000020.10:g.23028727A>G , CM000682.1:g.23028727A>G | GRCh37 |
| NC_000020.9:g.22976727A>G | NCBI36 |
| NG_012027.1:g.6575T>C , LRG_168:g.6575T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1415T>C MANE Select | ENSP00000366307.2:p.Leu472Pro | |
| ENST00000377103.2:c.1415T>C | ENSP00000366307.2:p.Leu472Pro | |
| NM_000361.2:c.1415T>C , LRG_168t1:c.1415T>C | NP_000352.1:p.Leu472Pro | |
| NM_000361.3:c.1415T>C MANE Select | NP_000352.1:p.Leu472Pro |