Linked Data
ClinVar Variation Id:
53006
ClinVar RCV Id:
RCV000046015
RCV000057619
RCV000223686
RCV000477954
RCV000678814
RCV002399406
RCV002504937
dbSNP Id:
rs199472804
gnomAD v4:
11-2776997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776997C>T , CM000673.2:g.2776997C>T | GRCh38 |
| NC_000011.9:g.2798227C>T , CM000673.1:g.2798227C>T | GRCh37 |
| NC_000011.8:g.2754803C>T | NCBI36 |
| NG_008935.1:g.337007C>T , LRG_287:g.337007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1340C>T | ENSP00000434560.2:p.Ser447Phe | |
| ENST00000646564.2:c.1157C>T | ENSP00000495806.2:p.Ser386Phe | |
| ENST00000155840.12:c.1697C>T MANE Select | ENSP00000155840.2:p.Ser566Phe | |
| ENST00000335475.6:c.1316C>T | ENSP00000334497.5:p.Ser439Phe | |
| ENST00000646564.1:c.803C>T | ENSP00000495806.1:p.Ser268Phe | |
| ENST00000155840.9:c.1697C>T | ENSP00000155840.2:p.Ser566Phe | |
| ENST00000335475.5:c.1316C>T | ENSP00000334497.5:p.Ser439Phe | |
| NM_000218.2:c.1697C>T , LRG_287t1:c.1697C>T | NP_000209.2:p.Ser566Phe | |
| NM_181798.1:c.1316C>T , LRG_287t2:c.1316C>T | NP_861463.1:p.Ser439Phe | |
| NM_000218.3:c.1697C>T MANE Select | NP_000209.2:p.Ser566Phe |