Linked Data
ClinVar Variation Id:
646104
ClinVar RCV Id:
RCV002234715
dbSNP Id:
rs780710712
ExAC:
5:151202385 G / A
gnomAD v2:
5-151202385-G-A
gnomAD v4:
5-151822824-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822824G>A , CM000667.2:g.151822824G>A | GRCh38 |
| NC_000005.9:g.151202385G>A , CM000667.1:g.151202385G>A | GRCh37 |
| NC_000005.8:g.151182578G>A | NCBI36 |
| NG_011764.1:g.107013C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.1199C>T MANE Select | ENSP00000274576.5:p.Ser400Phe | |
| ENST00000274576.8:c.1199C>T | ENSP00000274576.4:p.Ser400Phe | |
| ENST00000455880.2:c.1223C>T | ENSP00000411593.2:p.Ser408Phe | |
| ENST00000462581.6:c.*957C>T | ENSP00000430595.1:n.*957C>T | |
| NM_000171.3:c.1199C>T | NP_000162.2:p.Ser400Phe | |
| NM_001146040.1:c.1223C>T | NP_001139512.1:p.Ser408Phe | |
| NM_001292000.1:c.950C>T | NP_001278929.1:p.Ser317Phe | |
| NM_000171.4:c.1199C>T MANE Select | NP_000162.2:p.Ser400Phe | |
| NM_001146040.2:c.1223C>T | NP_001139512.1:p.Ser408Phe | |
| NM_001292000.2:c.950C>T | NP_001278929.1:p.Ser317Phe |