Linked Data
ClinVar Variation Id:
208201
ClinVar RCV Id:
RCV000190397
dbSNP Id:
rs796065050
gnomAD v2:
8-21608169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.21750657G>A , CM000670.2:g.21750657G>A | GRCh38 |
| NC_000008.10:g.21608169G>A , CM000670.1:g.21608169G>A | GRCh37 |
| NC_000008.9:g.21652449G>A | NCBI36 |
| NG_029215.1:g.43178C>T | |
| NG_029215.2:g.43178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524240.6:c.725C>T MANE Select | ENSP00000428518.1:p.Ser242Phe | |
| ENST00000306793.4:c.*779C>T | ENSP00000306654.4:n.*779C>T | |
| ENST00000517328.5:c.725C>T | ENSP00000429445.1:p.Ser242Phe | |
| ENST00000517892.5:c.410C>T | ENSP00000429979.1:p.Ser137Phe | |
| ENST00000518077.5:c.326C>T | ENSP00000429206.1:p.Ser109Phe | |
| ENST00000522071.2:c.725C>T | ENSP00000428721.1:p.Ser242Phe | |
| ENST00000524240.5:c.725C>T | ENSP00000428518.1:p.Ser242Phe | |
| NM_001165038.1:c.410C>T | NP_001158510.1:p.Ser137Phe | |
| NM_001165039.1:c.326C>T | NP_001158511.1:p.Ser109Phe | |
| NM_001495.4:c.725C>T | NP_001486.4:p.Ser242Phe | |
| XM_005273475.2:c.368C>T | XP_005273532.1:p.Ser123Phe | |
| XM_006716327.2:c.725C>T | XP_006716390.1:p.Ser242Phe | |
| XM_011544484.1:c.725C>T | XP_011542786.1:p.Ser242Phe | |
| XM_011544485.1:c.410C>T | XP_011542787.1:p.Ser137Phe | |
| XM_006716327.3:c.725C>T | XP_006716390.1:p.Ser242Phe | |
| XM_011544484.2:c.725C>T | XP_011542786.1:p.Ser242Phe | |
| XM_024447127.1:c.512C>T | XP_024302895.1:p.Ser171Phe | |
| NM_001495.5:c.725C>T MANE Select | NP_001486.4:p.Ser242Phe | |
| NM_001165038.2:c.410C>T | NP_001158510.1:p.Ser137Phe | |
| NM_001165039.2:c.326C>T | NP_001158511.1:p.Ser109Phe |