Linked Data
dbSNP Id:
rs2089682019
gnomAD v4:
19-52212695-G-T
MyVariant Identifiers:
chr19:g.52715948G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212695G>T , CM000681.2:g.52212695G>T | GRCh38 |
| NC_000019.9:g.52715948G>T , CM000681.1:g.52715948G>T | GRCh37 |
| NC_000019.8:g.57407760G>T | NCBI36 |
| NG_047068.1:g.27894G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.633G>T | ENSP00000391905.3:p.Arg211= | |
| ENST00000703395.1:c.-25G>T | ENSP00000515286.1:n.-25G>T | |
| ENST00000703396.1:n.457G>T | ||
| ENST00000703397.1:c.-25G>T | ENSP00000515287.1:n.-25G>T | |
| ENST00000703398.1:c.555G>T | ENSP00000515288.1:p.Arg185= | |
| ENST00000703421.1:n.666G>T | ||
| ENST00000703422.1:c.489G>T | ENSP00000515292.1:p.Arg163= | |
| ENST00000703423.1:c.-25G>T | ENSP00000515293.1:n.-25G>T | |
| ENST00000322088.11:c.513G>T MANE Select | ENSP00000324804.6:p.Arg171= | |
| ENST00000322088.10:c.513G>T | ENSP00000324804.6:p.Arg171= | |
| ENST00000454220.6:c.633G>T | ENSP00000391905.2:p.Arg211= | |
| ENST00000462047.1:n.204G>T | ||
| ENST00000462990.5:c.-25G>T | ENSP00000470504.1:n.-25G>T | |
| ENST00000473455.2:n.612G>T | ||
| NM_014225.5:c.513G>T | NP_055040.2:p.Arg171= | |
| NR_033500.1:n.707G>T | ||
| NM_001363656.1:c.-25G>T | NP_001350585.1:n.-25G>T | |
| NM_014225.6:c.513G>T MANE Select | NP_055040.2:p.Arg171= | |
| NM_001363656.2:c.-25G>T | NP_001350585.1:n.-25G>T | |
| NR_033500.2:n.457G>T |