Linked Data
ClinVar Variation Id:
875215
ClinVar RCV Id:
RCV001098863
dbSNP Id:
rs1292740512
gnomAD v3:
1-44978332-T-C
gnomAD v4:
1-44978332-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978332T>C , CM000663.2:g.44978332T>C | GRCh38 |
| NC_000001.10:g.45444004T>C , CM000663.1:g.45444004T>C | GRCh37 |
| NC_000001.9:g.45216591T>C | NCBI36 |
| NG_015864.1:g.13358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.277A>G MANE Select | ENSP00000353575.2:p.Ile93Val | |
| ENST00000360403.6:c.277A>G | ENSP00000353575.2:p.Ile93Val | |
| ENST00000372182.6:n.390A>G | ||
| ENST00000372183.7:c.277A>G | ENSP00000361257.3:p.Ile93Val | |
| ENST00000477953.5:n.380A>G | ||
| ENST00000480675.5:c.277A>G | ENSP00000485842.1:p.Ile93Val | |
| ENST00000487532.5:n.389A>G | ||
| ENST00000497010.1:n.389A>G | ||
| ENST00000620860.4:c.277A>G | ENSP00000483996.1:p.Ile93Val | |
| NM_001166588.2:c.277A>G | NP_001160060.1:p.Ile93Val | |
| NM_001261418.1:c.277A>G | NP_001248347.1:p.Ile93Val | |
| NM_020365.4:c.277A>G | NP_065098.1:p.Ile93Val | |
| XM_011542396.1:c.277A>G | XP_011540698.1:p.Ile93Val | |
| XM_017002745.2:c.277A>G | XP_016858234.1:p.Ile93Val | |
| XM_017002746.1:c.-178A>G | XP_016858235.1:n.-178A>G | |
| XM_017002747.1:c.-178A>G | XP_016858236.1:n.-178A>G | |
| NM_020365.5:c.277A>G MANE Select | NP_065098.1:p.Ile93Val | |
| NM_001166588.3:c.277A>G | NP_001160060.1:p.Ile93Val | |
| NM_001261418.2:c.277A>G | NP_001248347.1:p.Ile93Val |