Linked Data
dbSNP Id:
rs1216220475
gnomAD v2:
3-194325136-C-T
gnomAD v3:
3-194604407-C-T
gnomAD v4:
3-194604407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.194604407C>T , CM000665.2:g.194604407C>T | GRCh38 |
| NC_000003.11:g.194325136C>T , CM000665.1:g.194325136C>T | GRCh37 |
| NC_000003.10:g.195806425C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347147.9:c.1056G>A MANE Select | ENSP00000333355.6:p.Gln352= | |
| ENST00000347147.8:c.1056G>A | ENSP00000333355.6:p.Gln352= | |
| ENST00000381975.7:c.1052G>A | ENSP00000371402.3:p.Arg351Lys | |
| ENST00000392432.6:c.1197G>A | ENSP00000376227.2:p.Gln399= | |
| ENST00000419280.5:c.*352G>A | ENSP00000414077.1:n.*352G>A | |
| ENST00000429560.1:c.248G>A | ENSP00000403053.1:p.Arg83Lys | |
| ENST00000432352.5:c.330G>A | ENSP00000409963.1:p.Gln110= | |
| ENST00000452358.5:c.555G>A | ENSP00000414333.1:p.Gln185= | |
| ENST00000467284.1:n.102G>A | ||
| ENST00000473092.5:c.1056G>A | ENSP00000418674.1:p.Gln352= | |
| ENST00000477651.5:n.820G>A | ||
| NM_001011655.2:c.1056G>A | NP_001011655.1:p.Gln352= | |
| NM_001166305.1:c.1197G>A | NP_001159777.1:p.Gln399= | |
| NM_001166306.1:c.1052G>A | NP_001159778.1:p.Arg351Lys | |
| NM_138399.4:c.1056G>A | NP_612408.3:p.Gln352= | |
| XM_005269371.3:c.1056G>A | XP_005269428.1:p.Gln352= | |
| XM_011513318.1:c.1206G>A | XP_011511620.1:p.Gln402= | |
| XM_011513319.1:c.1143G>A | XP_011511621.1:p.Gln381= | |
| XM_011513320.1:c.1254G>A | XP_011511622.1:p.Gln418= | |
| XM_011513321.1:c.1122G>A | XP_011511623.1:p.Gln374= | |
| XM_011513322.1:c.1113G>A | XP_011511624.1:p.Gln371= | |
| XM_011513323.1:c.951G>A | XP_011511625.1:p.Gln317= | |
| XM_005269371.4:c.1056G>A | XP_005269428.1:p.Gln352= | |
| XM_011513318.2:c.1206G>A | XP_011511620.1:p.Gln402= | |
| XM_011513319.2:c.1143G>A | XP_011511621.1:p.Gln381= | |
| XM_011513320.2:c.1254G>A | XP_011511622.1:p.Gln418= | |
| XM_011513321.2:c.1122G>A | XP_011511623.1:p.Gln374= | |
| XM_011513322.2:c.1113G>A | XP_011511624.1:p.Gln371= | |
| XM_017007517.1:c.1065G>A | XP_016863006.1:p.Gln355= | |
| XM_017007518.1:c.1065G>A | XP_016863007.1:p.Gln355= | |
| NM_001011655.3:c.1056G>A MANE Select | NP_001011655.1:p.Gln352= | |
| NM_001166305.2:c.1197G>A | NP_001159777.1:p.Gln399= | |
| NM_001166306.2:c.1052G>A | NP_001159778.1:p.Arg351Lys | |
| NM_138399.5:c.1056G>A | NP_612408.3:p.Gln352= |