Linked Data
dbSNP Id:
rs1404808367
gnomAD v2:
19-52715946-C-T
gnomAD v3:
19-52212693-C-T
gnomAD v4:
19-52212693-C-T
COSMIC:
COSM3538017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212693C>T , CM000681.2:g.52212693C>T | GRCh38 |
| NC_000019.9:g.52715946C>T , CM000681.1:g.52715946C>T | GRCh37 |
| NC_000019.8:g.57407758C>T | NCBI36 |
| NG_047068.1:g.27892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.631C>T | ENSP00000391905.3:p.Arg211Trp | |
| ENST00000703395.1:c.-27C>T | ENSP00000515286.1:n.-27C>T | |
| ENST00000703396.1:n.455C>T | ||
| ENST00000703397.1:c.-27C>T | ENSP00000515287.1:n.-27C>T | |
| ENST00000703398.1:c.553C>T | ENSP00000515288.1:p.Arg185Trp | |
| ENST00000703421.1:n.664C>T | ||
| ENST00000703422.1:c.487C>T | ENSP00000515292.1:p.Arg163Trp | |
| ENST00000703423.1:c.-27C>T | ENSP00000515293.1:n.-27C>T | |
| ENST00000322088.11:c.511C>T MANE Select | ENSP00000324804.6:p.Arg171Trp | |
| ENST00000322088.10:c.511C>T | ENSP00000324804.6:p.Arg171Trp | |
| ENST00000454220.6:c.631C>T | ENSP00000391905.2:p.Arg211Trp | |
| ENST00000462047.1:n.202C>T | ||
| ENST00000462990.5:c.-27C>T | ENSP00000470504.1:n.-27C>T | |
| ENST00000473455.2:n.610C>T | ||
| NM_014225.5:c.511C>T | NP_055040.2:p.Arg171Trp | |
| NR_033500.1:n.705C>T | ||
| NM_001363656.1:c.-27C>T | NP_001350585.1:n.-27C>T | |
| NM_014225.6:c.511C>T MANE Select | NP_055040.2:p.Arg171Trp | |
| NM_001363656.2:c.-27C>T | NP_001350585.1:n.-27C>T | |
| NR_033500.2:n.455C>T |