Linked Data
dbSNP Id:
rs2122334554
gnomAD v4:
19-52212713-C-T
COSMIC:
COSM5513573
MyVariant Identifiers:
chr19:g.52715966C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212713C>T , CM000681.2:g.52212713C>T | GRCh38 |
| NC_000019.9:g.52715966C>T , CM000681.1:g.52715966C>T | GRCh37 |
| NC_000019.8:g.57407778C>T | NCBI36 |
| NG_047068.1:g.27912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.651C>T | ENSP00000391905.3:p.Asp217= | |
| ENST00000703395.1:c.-7C>T | ENSP00000515286.1:n.-7C>T | |
| ENST00000703396.1:n.475C>T | ||
| ENST00000703397.1:c.-7C>T | ENSP00000515287.1:n.-7C>T | |
| ENST00000703398.1:c.573C>T | ENSP00000515288.1:p.Asp191= | |
| ENST00000703421.1:n.684C>T | ||
| ENST00000703422.1:c.507C>T | ENSP00000515292.1:p.Asp169= | |
| ENST00000703423.1:c.-7C>T | ENSP00000515293.1:n.-7C>T | |
| ENST00000322088.11:c.531C>T MANE Select | ENSP00000324804.6:p.Asp177= | |
| ENST00000322088.10:c.531C>T | ENSP00000324804.6:p.Asp177= | |
| ENST00000454220.6:c.651C>T | ENSP00000391905.2:p.Asp217= | |
| ENST00000462047.1:n.222C>T | ||
| ENST00000462990.5:c.-7C>T | ENSP00000470504.1:n.-7C>T | |
| NM_014225.5:c.531C>T | NP_055040.2:p.Asp177= | |
| NR_033500.1:n.725C>T | ||
| NM_001363656.1:c.-7C>T | NP_001350585.1:n.-7C>T | |
| NM_014225.6:c.531C>T MANE Select | NP_055040.2:p.Asp177= | |
| NM_001363656.2:c.-7C>T | NP_001350585.1:n.-7C>T | |
| NR_033500.2:n.475C>T |