Linked Data
ClinVar Variation Id:
2792
ClinVar RCV Id:
RCV002512688
dbSNP Id:
rs397515344
gnomAD v4:
3-81648851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81648851C>G , CM000665.2:g.81648851C>G | GRCh38 |
| NC_000003.11:g.81698002C>G , CM000665.1:g.81698002C>G | GRCh37 |
| NC_000003.10:g.81780692C>G | NCBI36 |
| NG_011810.1:g.117950G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.691+5G>C MANE Select | ENSP00000410833.2:n.691+5G>C | |
| ENST00000429644.6:c.691+5G>C | ENSP00000410833.2:n.691+5G>C | |
| ENST00000489715.1:c.568+5G>C | ENSP00000419638.1:n.568+5G>C | |
| ENST00000498468.1:n.219+5G>C | ||
| NM_000158.3:c.691+5G>C | NP_000149.3:n.691+5G>C | |
| NM_000158.4:c.691+5G>C MANE Select | NP_000149.4:n.691+5G>C |