Linked Data
ClinVar Variation Id:
1729948
ClinVar RCV Id:
RCV002454680
dbSNP Id:
rs1302101624
gnomAD v2:
11-119077159-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206449C>G , CM000673.2:g.119206449C>G | GRCh38 |
| NC_000011.9:g.119077159C>G , CM000673.1:g.119077159C>G | GRCh37 |
| NC_000011.8:g.118582369C>G | NCBI36 |
| NG_016808.1:g.5170C>G , LRG_608:g.5170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.32C>G | ENSP00000515005.1:p.Ala11Gly | |
| ENST00000264033.6:c.32C>G MANE Select | ENSP00000264033.3:p.Ala11Gly | |
| ENST00000637974.1:c.26C>G | ENSP00000490763.1:p.Ala9Gly | |
| ENST00000264033.5:c.32C>G | ENSP00000264033.3:p.Ala11Gly | |
| ENST00000634586.1:c.32C>G | ENSP00000489218.1:p.Ala11Gly | |
| ENST00000634840.1:c.32C>G | ENSP00000489324.1:p.Ala11Gly | |
| NM_005188.3:c.32C>G , LRG_608t1:c.32C>G | NP_005179.2:p.Ala11Gly | |
| XM_011543057.1:c.32C>G | XP_011541359.1:p.Ala11Gly | |
| NM_005188.4:c.32C>G MANE Select | NP_005179.2:p.Ala11Gly |