Linked Data
ClinVar Variation Id:
501455
dbSNP Id:
rs765837100
ExAC:
2:238262035 G / A
gnomAD v2:
2-238262035-G-A
gnomAD v3:
2-237353392-G-A
gnomAD v4:
2-237353392-G-A
COSMIC:
COSM5008641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237353392G>A , CM000664.2:g.237353392G>A | GRCh38 |
| NC_000002.11:g.238262035G>A , CM000664.1:g.238262035G>A | GRCh37 |
| NC_000002.10:g.237926774G>A | NCBI36 |
| NG_008676.1:g.65816C>T , LRG_473:g.65816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6021C>T | ENSP00000315873.4:p.Gly2007= | |
| ENST00000295550.9:c.6639C>T MANE Select | ENSP00000295550.4:p.Gly2213= | |
| ENST00000295550.8:c.6639C>T | ENSP00000295550.4:p.Gly2213= | |
| ENST00000347401.7:c.4818C>T | ENSP00000315609.4:p.Gly1606= | |
| ENST00000353578.8:c.6021C>T | ENSP00000315873.4:p.Gly2007= | |
| ENST00000409809.5:c.6021C>T | ENSP00000386844.1:p.Gly2007= | |
| ENST00000472056.5:c.4818C>T | ENSP00000418285.1:p.Gly1606= | |
| ENST00000491769.1:n.893C>T | ||
| NM_004369.3:c.6639C>T , LRG_473t1:c.6639C>T | NP_004360.2:p.Gly2213= | |
| NM_057166.4:c.4818C>T | NP_476507.3:p.Gly1606= | |
| NM_057167.3:c.6021C>T | NP_476508.2:p.Gly2007= | |
| XM_005246065.1:c.6039C>T | XP_005246122.1:p.Gly2013= | |
| XM_005246066.1:c.5418C>T | XP_005246123.1:p.Gly1806= | |
| XM_006712253.1:c.6138C>T | XP_006712316.1:p.Gly2046= | |
| XM_011510574.1:c.6636C>T | XP_011508876.1:p.Gly2212= | |
| XM_011510575.1:c.4233C>T | XP_011508877.1:p.Gly1411= | |
| XM_017003304.1:c.4233C>T | XP_016858793.1:p.Gly1411= | |
| XM_024452684.1:c.5418C>T | XP_024308452.1:p.Gly1806= | |
| NM_004369.4:c.6639C>T MANE Select | NP_004360.2:p.Gly2213= | |
| NM_057166.5:c.4818C>T | NP_476507.3:p.Gly1606= | |
| NM_057167.4:c.6021C>T | NP_476508.2:p.Gly2007= |