Linked Data
ClinVar Variation Id:
476553
dbSNP Id:
rs1339553173
gnomAD v2:
2-238253405-C-G
gnomAD v4:
2-237344762-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344762C>G , CM000664.2:g.237344762C>G | GRCh38 |
| NC_000002.11:g.238253405C>G , CM000664.1:g.238253405C>G | GRCh37 |
| NC_000002.10:g.237918144C>G | NCBI36 |
| NG_008676.1:g.74446G>C , LRG_473:g.74446G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6638G>C | ENSP00000315873.4:p.Gly2213Ala | |
| ENST00000295550.9:c.7256G>C MANE Select | ENSP00000295550.4:p.Gly2419Ala | |
| ENST00000295550.8:c.7256G>C | ENSP00000295550.4:p.Gly2419Ala | |
| ENST00000347401.7:c.5432G>C | ENSP00000315609.4:p.Gly1811Ala | |
| ENST00000353578.8:c.6638G>C | ENSP00000315873.4:p.Gly2213Ala | |
| ENST00000409809.5:c.6638G>C | ENSP00000386844.1:p.Gly2213Ala | |
| ENST00000472056.5:c.5435G>C | ENSP00000418285.1:p.Gly1812Ala | |
| ENST00000491769.1:n.1510G>C | ||
| NM_004369.3:c.7256G>C , LRG_473t1:c.7256G>C | NP_004360.2:p.Gly2419Ala | |
| NM_057166.4:c.5435G>C | NP_476507.3:p.Gly1812Ala | |
| NM_057167.3:c.6638G>C | NP_476508.2:p.Gly2213Ala | |
| XM_005246065.1:c.6656G>C | XP_005246122.1:p.Gly2219Ala | |
| XM_005246066.1:c.6035G>C | XP_005246123.1:p.Gly2012Ala | |
| XM_006712253.1:c.6755G>C | XP_006712316.1:p.Gly2252Ala | |
| XM_011510574.1:c.7253G>C | XP_011508876.1:p.Gly2418Ala | |
| XM_011510575.1:c.4850G>C | XP_011508877.1:p.Gly1617Ala | |
| XM_017003304.1:c.4850G>C | XP_016858793.1:p.Gly1617Ala | |
| XM_024452684.1:c.6035G>C | XP_024308452.1:p.Gly2012Ala | |
| NM_004369.4:c.7256G>C MANE Select | NP_004360.2:p.Gly2419Ala | |
| NM_057166.5:c.5435G>C | NP_476507.3:p.Gly1812Ala | |
| NM_057167.4:c.6638G>C | NP_476508.2:p.Gly2213Ala |