Linked Data
ClinVar Variation Id:
1995313
ClinVar RCV Id:
RCV002819268
dbSNP Id:
rs1223652635
gnomAD v2:
19-49118716-G-C
gnomAD v4:
19-48615459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48615459G>C , CM000681.2:g.48615459G>C | GRCh38 |
| NC_000019.9:g.49118716G>C , CM000681.1:g.49118716G>C | GRCh37 |
| NC_000019.8:g.53810528G>C | NCBI36 |
| NG_029867.1:g.1169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549920.6:c.492-12C>G MANE Select | ENSP00000447001.1:n.492-12C>G | |
| ENST00000084795.9:c.496-12C>G | ||
| ENST00000546623.5:c.427-12C>G | ||
| ENST00000547892.1:n.3717C>G | ||
| ENST00000547897.5:c.298-12C>G | ENSP00000470988.1:n.298-12C>G | |
| ENST00000549273.5:c.*414C>G | ENSP00000449610.1:n.*414C>G | |
| ENST00000549370.5:c.*229-12C>G | ENSP00000449067.1:n.*229-12C>G | |
| ENST00000549533.1:n.550-12C>G | ||
| ENST00000549920.5:c.492-12C>G | ENSP00000447001.1:n.492-12C>G | |
| ENST00000550645.5:c.327-12C>G | ENSP00000448899.1:n.327-12C>G | |
| ENST00000550973.5:c.336-12C>G | ENSP00000447894.1:n.336-12C>G | |
| ENST00000551749.5:n.1963C>G | ||
| ENST00000552347.5:n.1526-12C>G | ||
| ENST00000552588.5:c.405-12C>G | ENSP00000449204.1:n.405-12C>G | |
| NM_000979.3:c.492-12C>G | NP_000970.1:n.492-12C>G | |
| NM_001270490.1:c.405-12C>G | NP_001257419.1:n.405-12C>G | |
| NR_073022.1:n.759-12C>G | ||
| NM_000979.4:c.492-12C>G MANE Select | NP_000970.1:n.492-12C>G | |
| NM_001270490.2:c.405-12C>G | NP_001257419.1:n.405-12C>G | |
| NR_073022.2:n.519-12C>G |