Linked Data
ClinVar Variation Id:
1656838
ClinVar RCV Id:
RCV002169054
dbSNP Id:
rs1370309387
gnomAD v4:
8-43199377-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43199377C>G , CM000670.2:g.43199377C>G | GRCh38 |
| NC_000008.10:g.43054520C>G , CM000670.1:g.43054520C>G | GRCh37 |
| NC_000008.9:g.43173677C>G | NCBI36 |
| NG_009552.1:g.63929C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1727-11C>G MANE Select | ENSP00000368965.4:n.1727-11C>G | |
| ENST00000379644.8:c.1727-11C>G | ENSP00000368965.4:n.1727-11C>G | |
| ENST00000519705.1:n.1043-11C>G | ||
| ENST00000521576.1:c.878-11C>G | ENSP00000429029.1:n.878-11C>G | |
| NM_152419.2:c.1727-11C>G | NP_689632.2:n.1727-11C>G | |
| XM_005273409.1:c.1838-11C>G | XP_005273466.1:n.1838-11C>G | |
| XM_005273410.1:c.1814-11C>G | XP_005273467.1:n.1814-11C>G | |
| XM_005273411.1:c.1646-11C>G | XP_005273468.1:n.1646-11C>G | |
| NM_001363227.1:c.1814-11C>G | NP_001350156.1:n.1814-11C>G | |
| NM_001363228.1:c.1535-11C>G | NP_001350157.1:n.1535-11C>G | |
| NM_001363229.1:c.863-11C>G | NP_001350158.1:n.863-11C>G | |
| NM_152419.3:c.1727-11C>G MANE Select | NP_689632.2:n.1727-11C>G | |
| NM_001363227.2:c.1814-11C>G | NP_001350156.1:n.1814-11C>G | |
| NM_001363228.2:c.1535-11C>G | NP_001350157.1:n.1535-11C>G | |
| NM_001363229.2:c.863-11C>G | NP_001350158.1:n.863-11C>G |