Linked Data
ClinVar Variation Id:
228558
dbSNP Id:
rs200758965
ExAC:
7:24749993 G / A
gnomAD v2:
7-24749993-G-A
gnomAD v3:
7-24710374-G-A
gnomAD v4:
7-24710374-G-A
COSMIC:
COSM6332515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24710374G>A , CM000669.2:g.24710374G>A | GRCh38 |
| NC_000007.13:g.24749993G>A , CM000669.1:g.24749993G>A | GRCh37 |
| NC_000007.12:g.24716518G>A | NCBI36 |
| NG_011593.1:g.52647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.712C>T | ENSP00000339587.3:p.Arg238Ter | |
| ENST00000409970.6:c.220C>T | ENSP00000387119.1:p.Arg74Ter | |
| ENST00000411476.3:n.564C>T | ||
| ENST00000414428.2:c.712C>T | ENSP00000413963.2:p.Arg238Ter | |
| ENST00000419307.6:c.220C>T | ENSP00000401332.1:p.Arg74Ter | |
| ENST00000446822.6:c.186C>T | ||
| ENST00000559637.6:n.407C>T | ||
| ENST00000645220.1:c.712C>T MANE Select | ENSP00000494186.1:p.Arg238Ter | |
| ENST00000342947.7:c.712C>T | ENSP00000339587.3:p.Arg238Ter | |
| ENST00000409775.7:c.712C>T | ENSP00000386670.3:p.Arg238Ter | |
| ENST00000409970.5:c.220C>T | ENSP00000387119.1:p.Arg74Ter | |
| ENST00000411476.2:c.564C>T | ENSP00000414090.2:p.Ser188= | |
| ENST00000415480.5:c.78C>T | ||
| ENST00000419307.5:c.220C>T | ENSP00000401332.1:p.Arg74Ter | |
| ENST00000446822.5:c.186C>T | ||
| ENST00000469133.1:n.214C>T | ||
| ENST00000559637.5:n.407C>T | ||
| NM_001127453.1:c.712C>T | NP_001120925.1:p.Arg238Ter | |
| NM_001127454.1:c.220C>T | NP_001120926.1:p.Arg74Ter | |
| NM_004403.2:c.712C>T | NP_004394.1:p.Arg238Ter | |
| XM_017011802.1:c.220C>T | XP_016867291.1:p.Arg74Ter | |
| XM_024446670.1:c.712C>T | XP_024302438.1:p.Arg238Ter | |
| NM_004403.3:c.712C>T | NP_004394.1:p.Arg238Ter | |
| NM_001127453.2:c.712C>T MANE Select | NP_001120925.1:p.Arg238Ter | |
| NM_001127454.2:c.220C>T | NP_001120926.1:p.Arg74Ter |