Linked Data
ClinVar Variation Id:
578821
ClinVar RCV Id:
RCV002533641
dbSNP Id:
rs745879915
ExAC:
1:116275587 C / G
gnomAD v2:
1-116275587-C-G
gnomAD v4:
1-115732966-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732966C>G , CM000663.2:g.115732966C>G | GRCh38 |
| NC_000001.10:g.116275587C>G , CM000663.1:g.116275587C>G | GRCh37 |
| NC_000001.9:g.116077110C>G | NCBI36 |
| NG_008802.1:g.40840G>C , LRG_404:g.40840G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.265G>C | ENSP00000518226.1:p.Ala89Pro | |
| ENST00000261448.6:c.541G>C MANE Select | ENSP00000261448.5:p.Ala181Pro | |
| ENST00000261448.5:c.541G>C | ENSP00000261448.5:p.Ala181Pro | |
| NM_001232.3:c.541G>C , LRG_404t1:c.541G>C | NP_001223.2:p.Ala181Pro | |
| NM_001232.4:c.541G>C MANE Select | NP_001223.2:p.Ala181Pro |