Linked Data
ClinVar Variation Id:
2876770
ClinVar RCV Id:
RCV003712486
dbSNP Id:
rs1029209344
gnomAD v2:
19-52715947-G-A
gnomAD v3:
19-52212694-G-A
gnomAD v4:
19-52212694-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212694G>A , CM000681.2:g.52212694G>A | GRCh38 |
| NC_000019.9:g.52715947G>A , CM000681.1:g.52715947G>A | GRCh37 |
| NC_000019.8:g.57407759G>A | NCBI36 |
| NG_047068.1:g.27893G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.632G>A | ENSP00000391905.3:p.Arg211Gln | |
| ENST00000703395.1:c.-26G>A | ENSP00000515286.1:n.-26G>A | |
| ENST00000703396.1:n.456G>A | ||
| ENST00000703397.1:c.-26G>A | ENSP00000515287.1:n.-26G>A | |
| ENST00000703398.1:c.554G>A | ENSP00000515288.1:p.Arg185Gln | |
| ENST00000703421.1:n.665G>A | ||
| ENST00000703422.1:c.488G>A | ENSP00000515292.1:p.Arg163Gln | |
| ENST00000703423.1:c.-26G>A | ENSP00000515293.1:n.-26G>A | |
| ENST00000322088.11:c.512G>A MANE Select | ENSP00000324804.6:p.Arg171Gln | |
| ENST00000322088.10:c.512G>A | ENSP00000324804.6:p.Arg171Gln | |
| ENST00000454220.6:c.632G>A | ENSP00000391905.2:p.Arg211Gln | |
| ENST00000462047.1:n.203G>A | ||
| ENST00000462990.5:c.-26G>A | ENSP00000470504.1:n.-26G>A | |
| ENST00000473455.2:n.611G>A | ||
| NM_014225.5:c.512G>A | NP_055040.2:p.Arg171Gln | |
| NR_033500.1:n.706G>A | ||
| NM_001363656.1:c.-26G>A | NP_001350585.1:n.-26G>A | |
| NM_014225.6:c.512G>A MANE Select | NP_055040.2:p.Arg171Gln | |
| NM_001363656.2:c.-26G>A | NP_001350585.1:n.-26G>A | |
| NR_033500.2:n.456G>A |