Linked Data
ClinVar Variation Id:
208373
ClinVar RCV Id:
RCV002514082
dbSNP Id:
rs772135867
ExAC:
1:41304146 C / T
gnomAD v2:
1-41304146-C-T
gnomAD v3:
1-40838474-C-T
gnomAD v4:
1-40838474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40838474C>T , CM000663.2:g.40838474C>T | GRCh38 |
| NC_000001.10:g.41304146C>T , CM000663.1:g.41304146C>T | GRCh37 |
| NC_000001.9:g.41076733C>T | NCBI36 |
| NG_008139.1:g.59463C>T | |
| NG_008139.2:g.59463C>T | |
| NG_008139.3:g.59688C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347132.10:c.2039C>T MANE Select | ENSP00000262916.6:p.Ser680Phe | |
| ENST00000347132.9:c.2039C>T | ENSP00000262916.6:p.Ser680Phe | |
| ENST00000443478.3:c.1620C>T | ||
| ENST00000506017.1:n.1358C>T | ||
| ENST00000509682.6:c.1877C>T | ENSP00000423756.2:p.Ser626Phe | |
| NM_004700.3:c.2039C>T | NP_004691.2:p.Ser680Phe | |
| NM_172163.2:c.1877C>T | NP_751895.1:p.Ser626Phe | |
| XM_017002792.1:c.1022C>T | XP_016858281.1:p.Ser341Phe | |
| NM_004700.4:c.2039C>T MANE Select | NP_004691.2:p.Ser680Phe | |
| NM_172163.3:c.1877C>T | NP_751895.1:p.Ser626Phe |