Linked Data
ClinVar Variation Id:
1480802
ClinVar RCV Id:
RCV001986038
dbSNP Id:
rs2145144098
gnomAD v4:
19-852954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.852954T>C , CM000681.2:g.852954T>C | GRCh38 |
| NC_000019.9:g.852954T>C , CM000681.1:g.852954T>C | GRCh37 |
| NC_000019.8:g.803954T>C | NCBI36 |
| NG_009627.1:g.5664T>C , LRG_57:g.5664T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.146T>C MANE Select | ENSP00000263621.1:p.Leu49Pro | |
| ENST00000263621.1:c.146T>C | ENSP00000263621.1:p.Leu49Pro | |
| ENST00000590230.5:c.146T>C | ENSP00000466090.1:p.Leu49Pro | |
| NM_001972.2:c.146T>C , LRG_57t1:c.146T>C | NP_001963.1:p.Leu49Pro | |
| XM_011527775.1:c.146T>C | XP_011526077.1:p.Leu49Pro | |
| XM_011527776.1:c.146T>C | XP_011526078.1:p.Leu49Pro | |
| NM_001972.3:c.146T>C | NP_001963.1:p.Leu49Pro | |
| NM_001972.4:c.146T>C MANE Select | NP_001963.1:p.Leu49Pro |