Linked Data
ClinVar Variation Id:
502583
ClinVar RCV Id:
RCV000597877
dbSNP Id:
rs1553553625
COSMIC:
COSM5663746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237360132C>T , CM000664.2:g.237360132C>T | GRCh38 |
| NC_000002.11:g.238268775C>T , CM000664.1:g.238268775C>T | GRCh37 |
| NC_000002.10:g.237933514C>T | NCBI36 |
| NG_008676.1:g.59076G>A , LRG_473:g.59076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000353578.9:c.5620G>A | ENSP00000315873.4:p.Gly1874Ser | |
| ENST00000295550.9:c.6238G>A MANE Select | ENSP00000295550.4:p.Gly2080Ser | |
| ENST00000295550.8:c.6238G>A | ENSP00000295550.4:p.Gly2080Ser | |
| ENST00000347401.7:c.4417G>A | ENSP00000315609.4:p.Gly1473Ser | |
| ENST00000353578.8:c.5620G>A | ENSP00000315873.4:p.Gly1874Ser | |
| ENST00000409809.5:c.5620G>A | ENSP00000386844.1:p.Gly1874Ser | |
| ENST00000472056.5:c.4417G>A | ENSP00000418285.1:p.Gly1473Ser | |
| NM_004369.3:c.6238G>A , LRG_473t1:c.6238G>A | NP_004360.2:p.Gly2080Ser | |
| NM_057166.4:c.4417G>A | NP_476507.3:p.Gly1473Ser | |
| NM_057167.3:c.5620G>A | NP_476508.2:p.Gly1874Ser | |
| XM_005246065.1:c.5638G>A | XP_005246122.1:p.Gly1880Ser | |
| XM_005246066.1:c.5017G>A | XP_005246123.1:p.Gly1673Ser | |
| XM_006712253.1:c.5737G>A | XP_006712316.1:p.Gly1913Ser | |
| XM_011510574.1:c.6235G>A | XP_011508876.1:p.Gly2079Ser | |
| XM_011510575.1:c.3832G>A | XP_011508877.1:p.Gly1278Ser | |
| XM_017003304.1:c.3832G>A | XP_016858793.1:p.Gly1278Ser | |
| XM_024452684.1:c.5017G>A | XP_024308452.1:p.Gly1673Ser | |
| NM_004369.4:c.6238G>A MANE Select | NP_004360.2:p.Gly2080Ser | |
| NM_057166.5:c.4417G>A | NP_476507.3:p.Gly1473Ser | |
| NM_057167.4:c.5620G>A | NP_476508.2:p.Gly1874Ser |