Linked Data
ClinVar Variation Id:
1642252
ClinVar RCV Id:
RCV002143226
dbSNP Id:
rs2146377909
gnomAD v4:
21-44288467-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288467T>C , CM000683.2:g.44288467T>C | GRCh38 |
| NC_000021.8:g.45708350T>C , CM000683.1:g.45708350T>C | GRCh37 |
| NC_000021.7:g.44532778T>C | NCBI36 |
| NG_009556.1:g.7588T>C , LRG_18:g.7588T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+9T>C MANE Select | ENSP00000291582.5:n.652+9T>C | |
| ENST00000291582.5:c.652+9T>C | ENSP00000291582.5:n.652+9T>C | |
| ENST00000527919.5:n.1196+9T>C | ||
| ENST00000530812.5:n.1213T>C | ||
| NM_000383.3:c.652+9T>C | NP_000374.1:n.652+9T>C | |
| XM_011529551.1:c.652+9T>C | XP_011527853.1:n.652+9T>C | |
| NM_000383.4:c.652+9T>C MANE Select | NP_000374.1:n.652+9T>C |