Linked Data
ClinVar Variation Id:
2743031
ClinVar RCV Id:
RCV003516599
MyVariant Identifiers:
chr5:g.35873701A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873599A>G , CM000667.2:g.35873599A>G | GRCh38 |
| NC_000005.9:g.35873701A>G , CM000667.1:g.35873701A>G | GRCh37 |
| NC_000005.8:g.35909458A>G | NCBI36 |
| NG_009567.1:g.21711A>G , LRG_74:g.21711A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.657A>G MANE Select | ENSP00000306157.3:p.Glu219= | |
| ENST00000303115.7:c.657A>G | ENSP00000306157.3:p.Glu219= | |
| ENST00000505093.1:c.66A>G | ENSP00000426069.1:p.Glu22= | |
| ENST00000506850.5:c.657A>G | ENSP00000421207.1:p.Glu219= | |
| ENST00000509668.1:n.399A>G | ||
| ENST00000514217.5:c.538-1913A>G | ENSP00000427688.1:n.538-1913A>G | |
| NM_002185.3:c.657A>G | NP_002176.2:p.Glu219= | |
| NR_120485.1:n.641-1913A>G | ||
| XM_005248299.2:c.657A>G | XP_005248356.1:p.Glu219= | |
| XM_005248300.1:c.657A>G | XP_005248357.1:p.Glu219= | |
| XM_011514037.1:c.657A>G | XP_011512339.1:p.Glu219= | |
| NM_002185.4:c.657A>G | NP_002176.2:p.Glu219= | |
| NR_120485.2:n.667-1913A>G | ||
| XM_005248299.4:c.657A>G | XP_005248356.1:p.Glu219= | |
| NM_002185.5:c.657A>G MANE Select | NP_002176.2:p.Glu219= | |
| NR_120485.3:n.625-1913A>G |