Linked Data
ClinVar Variation Id:
2599574
ClinVar RCV Id:
RCV004349446
dbSNP Id:
rs201932753
ExAC:
1:36929753 G / A
gnomAD v2:
1-36929753-G-A
gnomAD v4:
1-36464152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36464152G>A , CM000663.2:g.36464152G>A | GRCh38 |
| NC_000001.10:g.36929753G>A , CM000663.1:g.36929753G>A | GRCh37 |
| NC_000001.9:g.36702340G>A | NCBI36 |
| NG_016270.1:g.23757C>T , LRG_144:g.23757C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373116.6:c.124C>T MANE Select | ENSP00000362208.5:p.Pro42Ser | |
| ENST00000373116.5:c.124C>T | ENSP00000362208.5:p.Pro42Ser | |
| ENST00000462067.1:n.64+130C>T | ||
| NM_031280.3:c.124C>T | NP_112570.2:p.Pro42Ser | |
| NM_031280.4:c.124C>T MANE Select | NP_112570.2:p.Pro42Ser |