Linked Data
dbSNP Id:
rs746761862
ExAC:
1:78401668 G / T
gnomAD v2:
1-78401668-G-T
gnomAD v4:
1-77935983-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935983G>T , CM000663.2:g.77935983G>T | GRCh38 |
| NC_000001.10:g.78401668G>T , CM000663.1:g.78401668G>T | GRCh37 |
| NC_000001.9:g.78174256G>T | NCBI36 |
| NG_016625.1:g.52469G>T , LRG_442:g.52469G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1412G>T MANE Select | ENSP00000333938.7:p.Arg471Leu | |
| ENST00000330010.12:c.1220G>T | ENSP00000327363.8:p.Arg407Leu | |
| ENST00000334785.11:c.1412G>T | ENSP00000333938.7:p.Arg471Leu | |
| ENST00000342754.5:c.1111G>T | ||
| ENST00000480732.2:n.986G>T | ||
| NM_001172309.1:c.1220G>T | NP_001165780.1:p.Arg407Leu | |
| NM_144573.3:c.1412G>T , LRG_442t1:c.1412G>T | NP_653174.3:p.Arg471Leu | |
| XM_005271322.2:c.1412G>T | XP_005271379.1:p.Arg471Leu | |
| XM_005271323.2:c.1370G>T | XP_005271380.1:p.Arg457Leu | |
| XM_005271324.3:c.1220G>T | XP_005271381.1:p.Arg407Leu | |
| XM_005271325.2:c.1251+2504G>T | XP_005271382.1:n.1251+2504G>T | |
| XM_005271326.2:c.1178G>T | XP_005271383.1:p.Arg393Leu | |
| XM_005271327.2:c.995G>T | XP_005271384.1:p.Arg332Leu | |
| XM_005271322.4:c.1412G>T | XP_005271379.1:p.Arg471Leu | |
| XM_005271323.4:c.1370G>T | XP_005271380.1:p.Arg457Leu | |
| XM_005271324.5:c.1220G>T | XP_005271381.1:p.Arg407Leu | |
| XM_005271325.4:c.1251+2504G>T | XP_005271382.1:n.1251+2504G>T | |
| XM_005271326.4:c.1178G>T | XP_005271383.1:p.Arg393Leu | |
| XM_005271327.4:c.995G>T | XP_005271384.1:p.Arg332Leu | |
| NM_001172309.2:c.1220G>T | NP_001165780.1:p.Arg407Leu | |
| NM_144573.4:c.1412G>T MANE Select | NP_653174.3:p.Arg471Leu |