Linked Data
ClinVar Variation Id:
986324
ClinVar RCV Id:
RCV001385870
dbSNP Id:
rs978427853
gnomAD v4:
2-189575194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189575194C>T , CM000664.2:g.189575194C>T | GRCh38 |
| NC_000002.11:g.190439920C>T , CM000664.1:g.190439920C>T | GRCh37 |
| NC_000002.10:g.190148165C>T | NCBI36 |
| NG_009027.1:g.10618G>A , LRG_837:g.10618G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261024.7:c.238G>A MANE Select | ENSP00000261024.3:p.Gly80Ser | |
| ENST00000261024.6:c.238G>A | ENSP00000261024.2:p.Gly80Ser | |
| ENST00000418714.1:n.679G>A | ||
| ENST00000427241.5:c.238G>A | ENSP00000390005.1:p.Gly80Ser | |
| ENST00000479598.5:n.519G>A | ||
| NM_014585.5:c.238G>A , LRG_837t1:c.238G>A | NP_055400.1:p.Gly80Ser | |
| XM_005246505.1:c.118G>A | XP_005246562.1:p.Gly40Ser | |
| XM_005246505.2:c.118G>A | XP_005246562.1:p.Gly40Ser | |
| XM_017003938.2:c.118G>A | XP_016859427.1:p.Gly40Ser | |
| NM_014585.6:c.238G>A MANE Select | NP_055400.1:p.Gly80Ser |