Linked Data
ClinVar Variation Id:
1963363
ClinVar RCV Id:
RCV002711112
dbSNP Id:
rs1007403545
gnomAD v2:
1-78401630-G-T
gnomAD v3:
1-77935945-G-T
gnomAD v4:
1-77935945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935945G>T , CM000663.2:g.77935945G>T | GRCh38 |
| NC_000001.10:g.78401630G>T , CM000663.1:g.78401630G>T | GRCh37 |
| NC_000001.9:g.78174218G>T | NCBI36 |
| NG_016625.1:g.52431G>T , LRG_442:g.52431G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1374G>T MANE Select | ENSP00000333938.7:p.Leu458Phe | |
| ENST00000330010.12:c.1182G>T | ENSP00000327363.8:p.Leu394Phe | |
| ENST00000334785.11:c.1374G>T | ENSP00000333938.7:p.Leu458Phe | |
| ENST00000342754.5:c.1073G>T | ||
| ENST00000464998.1:n.834G>T | ||
| ENST00000480732.2:n.948G>T | ||
| NM_001172309.1:c.1182G>T | NP_001165780.1:p.Leu394Phe | |
| NM_144573.3:c.1374G>T , LRG_442t1:c.1374G>T | NP_653174.3:p.Leu458Phe | |
| XM_005271322.2:c.1374G>T | XP_005271379.1:p.Leu458Phe | |
| XM_005271323.2:c.1332G>T | XP_005271380.1:p.Leu444Phe | |
| XM_005271324.3:c.1182G>T | XP_005271381.1:p.Leu394Phe | |
| XM_005271325.2:c.1251+2466G>T | XP_005271382.1:n.1251+2466G>T | |
| XM_005271326.2:c.1140G>T | XP_005271383.1:p.Leu380Phe | |
| XM_005271327.2:c.957G>T | XP_005271384.1:p.Leu319Phe | |
| XM_005271322.4:c.1374G>T | XP_005271379.1:p.Leu458Phe | |
| XM_005271323.4:c.1332G>T | XP_005271380.1:p.Leu444Phe | |
| XM_005271324.5:c.1182G>T | XP_005271381.1:p.Leu394Phe | |
| XM_005271325.4:c.1251+2466G>T | XP_005271382.1:n.1251+2466G>T | |
| XM_005271326.4:c.1140G>T | XP_005271383.1:p.Leu380Phe | |
| XM_005271327.4:c.957G>T | XP_005271384.1:p.Leu319Phe | |
| NM_001172309.2:c.1182G>T | NP_001165780.1:p.Leu394Phe | |
| NM_144573.4:c.1374G>T MANE Select | NP_653174.3:p.Leu458Phe |