Linked Data
ClinVar Variation Id:
1517838
ClinVar RCV Id:
RCV002041189
dbSNP Id:
rs372716916
gnomAD v2:
19-52716042-A-G
gnomAD v4:
19-52212789-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212789A>G , CM000681.2:g.52212789A>G | GRCh38 |
| NC_000019.9:g.52716042A>G , CM000681.1:g.52716042A>G | GRCh37 |
| NC_000019.8:g.57407854A>G | NCBI36 |
| NG_047068.1:g.27988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454220.7:c.727A>G | ENSP00000391905.3:p.Ser243Gly | |
| ENST00000703395.1:c.70A>G | ENSP00000515286.1:p.Ser24Gly | |
| ENST00000703396.1:n.551A>G | ||
| ENST00000703397.1:c.70A>G | ENSP00000515287.1:p.Ser24Gly | |
| ENST00000703398.1:c.649A>G | ENSP00000515288.1:p.Ser217Gly | |
| ENST00000703421.1:n.760A>G | ||
| ENST00000703422.1:c.583A>G | ENSP00000515292.1:p.Ser195Gly | |
| ENST00000703423.1:c.70A>G | ENSP00000515293.1:p.Ser24Gly | |
| ENST00000322088.11:c.607A>G MANE Select | ENSP00000324804.6:p.Ser203Gly | |
| ENST00000322088.10:c.607A>G | ENSP00000324804.6:p.Ser203Gly | |
| ENST00000454220.6:c.727A>G | ENSP00000391905.2:p.Ser243Gly | |
| ENST00000462047.1:n.298A>G | ||
| ENST00000462990.5:c.70A>G | ENSP00000470504.1:p.Ser24Gly | |
| NM_014225.5:c.607A>G | NP_055040.2:p.Ser203Gly | |
| NR_033500.1:n.801A>G | ||
| NM_001363656.1:c.70A>G | NP_001350585.1:p.Ser24Gly | |
| NM_014225.6:c.607A>G MANE Select | NP_055040.2:p.Ser203Gly | |
| NM_001363656.2:c.70A>G | NP_001350585.1:p.Ser24Gly | |
| NR_033500.2:n.551A>G |