Linked Data
ClinVar Variation Id:
1063923
dbSNP Id:
rs150278881
ExAC:
5:131722742 C / T
gnomAD v2:
5-131722742-C-T
gnomAD v3:
5-132387050-C-T
gnomAD v4:
5-132387050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387050C>T , CM000667.2:g.132387050C>T | GRCh38 |
| NC_000005.9:g.131722742C>T , CM000667.1:g.131722742C>T | GRCh37 |
| NC_000005.8:g.131750641C>T | NCBI36 |
| NG_008982.1:g.22342C>T | |
| NG_008982.2:g.22347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.691C>T | ENSP00000388838.2:p.Leu231Phe | |
| ENST00000435065.7:c.922C>T | ENSP00000402760.2:p.Leu308Phe | |
| ENST00000448810.6:c.850C>T | ENSP00000401860.2:p.Leu284Phe | |
| ENST00000686757.1:c.*14C>T | ENSP00000510721.1:n.*14C>T | |
| ENST00000687740.1:n.3535C>T | ||
| ENST00000688151.1:n.2160C>T | ||
| ENST00000689271.1:c.697C>T | ENSP00000510797.1:p.Leu233Phe | |
| ENST00000690900.1:c.*14C>T | ENSP00000510703.1:n.*14C>T | |
| ENST00000692212.1:n.794C>T | ||
| ENST00000692355.1:c.205-1871C>T | ||
| ENST00000692413.1:c.844-12C>T | ENSP00000509374.1:n.844-12C>T | |
| ENST00000692825.1:c.918C>T | ENSP00000509447.1:n.918C>T | |
| ENST00000693308.1:c.898C>T | ENSP00000509770.1:p.Leu300Phe | |
| ENST00000693763.1:n.2010C>T | ||
| ENST00000245407.8:c.850C>T MANE Select | ENSP00000245407.3:p.Leu284Phe | |
| ENST00000245407.7:c.850C>T | ENSP00000245407.3:p.Leu284Phe | |
| ENST00000415928.5:c.619C>T | ENSP00000388838.1:p.Leu207Phe | |
| ENST00000435065.6:c.922C>T | ENSP00000402760.2:p.Leu308Phe | |
| ENST00000437841.6:c.*165C>T | ENSP00000400553.1:n.*165C>T | |
| ENST00000448810.5:c.198C>T | ||
| ENST00000461013.5:n.8272C>T | ||
| NM_001308122.1:c.922C>T | NP_001295051.1:p.Leu308Phe | |
| NM_003060.3:c.850C>T | NP_003051.1:p.Leu284Phe | |
| XM_011543590.1:c.232C>T | XP_011541892.1:p.Leu78Phe | |
| XR_427718.1:n.1210C>T | ||
| XR_948290.1:n.1191C>T | ||
| XR_948291.1:n.1204C>T | ||
| XM_011543590.2:c.232C>T | XP_011541892.1:p.Leu78Phe | |
| XM_017009778.2:c.322C>T | XP_016865267.1:p.Leu108Phe | |
| XR_001742215.1:n.1191C>T | ||
| XR_001742216.1:n.1210C>T | ||
| XR_427718.2:n.1210C>T | ||
| XR_948290.2:n.1191C>T | ||
| XR_948291.2:n.1204C>T | ||
| NM_003060.4:c.850C>T MANE Select | NP_003051.1:p.Leu284Phe | |
| NM_001308122.2:c.922C>T | NP_001295051.1:p.Leu308Phe |