Linked Data
ClinVar Variation Id:
376507
ClinVar RCV Id:
RCV000420232
RCV000420845
RCV000424779
RCV000425233
RCV000427601
RCV000432038
RCV000435052
RCV000437886
RCV000443078
dbSNP Id:
rs1057519946
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212729C>G , CM000681.2:g.52212729C>G | GRCh38 |
| NC_000019.9:g.52715982C>G , CM000681.1:g.52715982C>G | GRCh37 |
| NC_000019.8:g.57407794C>G | NCBI36 |
| NG_047068.1:g.27928C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454220.7:c.667C>G | ENSP00000391905.3:p.Arg223Gly | |
| ENST00000703395.1:c.10C>G | ENSP00000515286.1:p.Arg4Gly | |
| ENST00000703396.1:n.491C>G | ||
| ENST00000703397.1:c.10C>G | ENSP00000515287.1:p.Arg4Gly | |
| ENST00000703398.1:c.589C>G | ENSP00000515288.1:p.Arg197Gly | |
| ENST00000703421.1:n.700C>G | ||
| ENST00000703422.1:c.523C>G | ENSP00000515292.1:p.Arg175Gly | |
| ENST00000703423.1:c.10C>G | ENSP00000515293.1:p.Arg4Gly | |
| ENST00000322088.11:c.547C>G MANE Select | ENSP00000324804.6:p.Arg183Gly | |
| ENST00000322088.10:c.547C>G | ENSP00000324804.6:p.Arg183Gly | |
| ENST00000454220.6:c.667C>G | ENSP00000391905.2:p.Arg223Gly | |
| ENST00000462047.1:n.238C>G | ||
| ENST00000462990.5:c.10C>G | ENSP00000470504.1:p.Arg4Gly | |
| NM_014225.5:c.547C>G | NP_055040.2:p.Arg183Gly | |
| NR_033500.1:n.741C>G | ||
| NM_001363656.1:c.10C>G | NP_001350585.1:p.Arg4Gly | |
| NM_014225.6:c.547C>G MANE Select | NP_055040.2:p.Arg183Gly | |
| NM_001363656.2:c.10C>G | NP_001350585.1:p.Arg4Gly | |
| NR_033500.2:n.491C>G |