Linked Data
ClinVar Variation Id:
473874
ClinVar RCV Id:
RCV000529801
dbSNP Id:
rs116564150
ExAC:
4:89199397 G / A
gnomAD v2:
4-89199397-G-A
gnomAD v3:
4-88278245-G-A
gnomAD v4:
4-88278245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88278245G>A , CM000666.2:g.88278245G>A | GRCh38 |
| NC_000004.11:g.89199397G>A , CM000666.1:g.89199397G>A | GRCh37 |
| NC_000004.10:g.89418421G>A | NCBI36 |
| NG_032931.1:g.11587C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000608933.6:c.339C>T MANE Select | ENSP00000477341.1:p.Phe113= | |
| ENST00000295908.11:c.339C>T | ENSP00000295908.7:p.Phe113= | |
| ENST00000505022.1:c.339C>T | ENSP00000477051.1:p.Phe113= | |
| ENST00000506423.1:n.554C>T | ||
| ENST00000508256.5:c.-217-1002C>T | ENSP00000476452.1:n.-217-1002C>T | |
| ENST00000510548.6:c.-218+291C>T | ENSP00000476789.1:n.-218+291C>T | |
| ENST00000513546.3:n.1456C>T | ||
| ENST00000514204.1:c.339C>T | ENSP00000477241.1:p.Phe113= | |
| ENST00000608933.5:c.339C>T | ENSP00000477341.1:p.Phe113= | |
| NM_152542.4:c.339C>T | NP_689755.3:p.Phe113= | |
| XM_005262775.2:c.339C>T | XP_005262832.1:p.Phe113= | |
| XM_006714111.2:c.339C>T | XP_006714174.1:p.Phe113= | |
| XM_011531669.1:c.339C>T | XP_011529971.1:p.Phe113= | |
| XM_011531670.1:c.339C>T | XP_011529972.1:p.Phe113= | |
| XM_005262775.4:c.339C>T | XP_005262832.1:p.Phe113= | |
| XM_006714111.4:c.339C>T | XP_006714174.1:p.Phe113= | |
| XM_017007803.2:c.339C>T | XP_016863292.1:p.Phe113= | |
| XM_017007804.2:c.-182C>T | XP_016863293.1:n.-182C>T | |
| XM_017007805.2:c.-182C>T | XP_016863294.1:n.-182C>T | |
| XM_017007806.2:c.-80-1002C>T | XP_016863295.1:n.-80-1002C>T | |
| NM_152542.5:c.339C>T MANE Select | NP_689755.3:p.Phe113= |