Linked Data
ClinVar Variation Id:
2543855
ClinVar RCV Id:
RCV004314566
dbSNP Id:
rs142364954
ExAC:
3:194325087 C / T
gnomAD v2:
3-194325087-C-T
gnomAD v3:
3-194604358-C-T
gnomAD v4:
3-194604358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604358C>T , CM000665.2:g.194604358C>T | GRCh38 |
| NC_000003.11:g.194325087C>T , CM000665.1:g.194325087C>T | GRCh37 |
| NC_000003.10:g.195806376C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1105G>A MANE Select | ENSP00000333355.6:p.Val369Ile | |
| ENST00000347147.8:c.1105G>A | ENSP00000333355.6:p.Val369Ile | |
| ENST00000381975.7:c.1101G>A | ENSP00000371402.3:p.Pro367= | |
| ENST00000392432.6:c.1246G>A | ENSP00000376227.2:p.Val416Ile | |
| ENST00000419280.5:c.*401G>A | ENSP00000414077.1:n.*401G>A | |
| ENST00000429560.1:c.297G>A | ENSP00000403053.1:p.Pro99= | |
| ENST00000432352.5:c.379G>A | ENSP00000409963.1:p.Val127Ile | |
| ENST00000452358.5:c.604G>A | ENSP00000414333.1:p.Val202Ile | |
| ENST00000467284.1:n.151G>A | ||
| ENST00000473092.5:c.1105G>A | ENSP00000418674.1:p.Val369Ile | |
| ENST00000477651.5:n.869G>A | ||
| NM_001011655.2:c.1105G>A | NP_001011655.1:p.Val369Ile | |
| NM_001166305.1:c.1246G>A | NP_001159777.1:p.Val416Ile | |
| NM_001166306.1:c.1101G>A | NP_001159778.1:p.Pro367= | |
| NM_138399.4:c.1105G>A | NP_612408.3:p.Val369Ile | |
| XM_005269371.3:c.1105G>A | XP_005269428.1:p.Val369Ile | |
| XM_011513318.1:c.1255G>A | XP_011511620.1:p.Val419Ile | |
| XM_011513319.1:c.1192G>A | XP_011511621.1:p.Val398Ile | |
| XM_011513320.1:c.1303G>A | XP_011511622.1:p.Val435Ile | |
| XM_011513321.1:c.1171G>A | XP_011511623.1:p.Val391Ile | |
| XM_011513322.1:c.1162G>A | XP_011511624.1:p.Val388Ile | |
| XM_011513323.1:c.1000G>A | XP_011511625.1:p.Val334Ile | |
| XM_005269371.4:c.1105G>A | XP_005269428.1:p.Val369Ile | |
| XM_011513318.2:c.1255G>A | XP_011511620.1:p.Val419Ile | |
| XM_011513319.2:c.1192G>A | XP_011511621.1:p.Val398Ile | |
| XM_011513320.2:c.1303G>A | XP_011511622.1:p.Val435Ile | |
| XM_011513321.2:c.1171G>A | XP_011511623.1:p.Val391Ile | |
| XM_011513322.2:c.1162G>A | XP_011511624.1:p.Val388Ile | |
| XM_017007517.1:c.1114G>A | XP_016863006.1:p.Val372Ile | |
| XM_017007518.1:c.1114G>A | XP_016863007.1:p.Val372Ile | |
| NM_001011655.3:c.1105G>A MANE Select | NP_001011655.1:p.Val369Ile | |
| NM_001166305.2:c.1246G>A | NP_001159777.1:p.Val416Ile | |
| NM_001166306.2:c.1101G>A | NP_001159778.1:p.Pro367= | |
| NM_138399.5:c.1105G>A | NP_612408.3:p.Val369Ile |