Linked Data
ClinVar Variation Id:
2083770
ClinVar RCV Id:
RCV003009218
dbSNP Id:
rs754253328
ExAC:
1:24143985 G / A
gnomAD v2:
1-24143985-G-A
gnomAD v3:
1-23817495-G-A
gnomAD v4:
1-23817495-G-A
COSMIC:
COSM4577063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23817495G>A , CM000663.2:g.23817495G>A | GRCh38 |
| NC_000001.10:g.24143985G>A , CM000663.1:g.24143985G>A | GRCh37 |
| NC_000001.9:g.24016572G>A | NCBI36 |
| NG_013061.1:g.12965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.233C>T MANE Select | ENSP00000363614.3:p.Ser78Phe | |
| ENST00000235958.4:c.131+3015C>T | ||
| ENST00000374487.6:c.*274C>T | ENSP00000363611.2:n.*274C>T | |
| ENST00000374490.7:c.233C>T | ENSP00000363614.3:p.Ser78Phe | |
| ENST00000436439.6:c.233C>T | ENSP00000389281.2:p.Ser78Phe | |
| ENST00000498698.1:n.39C>T | ||
| ENST00000509389.5:n.245C>T | ||
| ENST00000513148.1:n.234C>T | ||
| NM_000191.2:c.233C>T | NP_000182.2:p.Ser78Phe | |
| NM_001166059.1:c.233C>T | NP_001159531.1:p.Ser78Phe | |
| NM_000191.3:c.233C>T MANE Select | NP_000182.2:p.Ser78Phe | |
| NM_001166059.2:c.233C>T | NP_001159531.1:p.Ser78Phe |