Linked Data
ClinVar Variation Id:
2748347
ClinVar RCV Id:
RCV003565964
dbSNP Id:
rs374188367
ExAC:
2:233404713 C / A
gnomAD v2:
2-233404713-C-A
gnomAD v3:
2-232540003-C-A
gnomAD v4:
2-232540003-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540003C>A , CM000664.2:g.232540003C>A | GRCh38 |
| NC_000002.11:g.233404713C>A , CM000664.1:g.233404713C>A | GRCh37 |
| NC_000002.10:g.233112957C>A | NCBI36 |
| NG_012954.1:g.5277C>A | |
| NG_012954.2:g.5312C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.67C>A MANE Select | ENSP00000498757.1:p.Arg23= | |
| ENST00000389492.3:c.67C>A | ENSP00000374143.3:p.Arg23= | |
| ENST00000389494.7:c.67C>A | ENSP00000374145.3:p.Arg23= | |
| ENST00000485094.1:n.88C>A | ||
| NM_005199.4:c.67C>A | NP_005190.4:p.Arg23= | |
| NM_005199.5:c.67C>A MANE Select | NP_005190.4:p.Arg23= |