Linked Data
ClinVar Variation Id:
215813
dbSNP Id:
rs34474955
ExAC:
2:47601066 A / G
gnomAD v2:
2-47601066-A-G
gnomAD v3:
2-47373927-A-G
gnomAD v4:
2-47373927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373927A>G , CM000664.2:g.47373927A>G | GRCh38 |
| NC_000002.11:g.47601066A>G , CM000664.1:g.47601066A>G | GRCh37 |
| NC_000002.10:g.47454570A>G | NCBI36 |
| NG_012352.2:g.33765A>G , LRG_215:g.33765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.304A>G MANE Select | ENSP00000263735.4:p.Ser102Gly | |
| ENST00000263735.8:c.304A>G | ENSP00000263735.4:p.Ser102Gly | |
| ENST00000405271.5:c.388A>G | ENSP00000385476.1:p.Ser130Gly | |
| ENST00000419334.1:c.532A>G | ENSP00000389028.1:p.Ser178Gly | |
| ENST00000456133.5:c.388A>G | ENSP00000410675.1:p.Ser130Gly | |
| ENST00000474691.1:n.572A>G | ||
| ENST00000490733.1:n.153A>G | ||
| NM_002354.2:c.304A>G , LRG_215t1:c.304A>G | NP_002345.2:p.Ser102Gly | |
| NM_002354.3:c.304A>G MANE Select | NP_002345.2:p.Ser102Gly |