Linked Data
ClinVar Variation Id:
288878
dbSNP Id:
rs886044034
gnomAD v3:
2-237325594-T-C
gnomAD v4:
2-237325594-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325594T>C , CM000664.2:g.237325594T>C | GRCh38 |
| NC_000002.11:g.238234237T>C , CM000664.1:g.238234237T>C | GRCh37 |
| NC_000002.10:g.237898976T>C | NCBI36 |
| NG_008676.1:g.93614A>G , LRG_473:g.93614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1840A>G | ||
| ENST00000353578.9:c.8841A>G | ENSP00000315873.4:p.Gly2947= | |
| ENST00000682957.1:c.1586A>G | ||
| ENST00000683348.1:c.325A>G | ENSP00000508058.1:n.325A>G | |
| ENST00000295550.9:c.9459A>G MANE Select | ENSP00000295550.4:p.Gly3153= | |
| ENST00000295550.8:c.9459A>G | ENSP00000295550.4:p.Gly3153= | |
| ENST00000347401.7:c.7635A>G | ENSP00000315609.4:p.Gly2545= | |
| ENST00000353578.8:c.8841A>G | ENSP00000315873.4:p.Gly2947= | |
| ENST00000409809.5:c.8841A>G | ENSP00000386844.1:p.Gly2947= | |
| ENST00000472056.5:c.7638A>G | ENSP00000418285.1:p.Gly2546= | |
| ENST00000473258.1:n.4587A>G | ||
| ENST00000491769.1:n.5901A>G | ||
| NM_004369.3:c.9459A>G , LRG_473t1:c.9459A>G | NP_004360.2:p.Gly3153= | |
| NM_057166.4:c.7638A>G | NP_476507.3:p.Gly2546= | |
| NM_057167.3:c.8841A>G | NP_476508.2:p.Gly2947= | |
| XM_005246065.1:c.8859A>G | XP_005246122.1:p.Gly2953= | |
| XM_005246066.1:c.8238A>G | XP_005246123.1:p.Gly2746= | |
| XM_006712253.1:c.8958A>G | XP_006712316.1:p.Gly2986= | |
| XM_011510574.1:c.9456A>G | XP_011508876.1:p.Gly3152= | |
| XM_011510575.1:c.7053A>G | XP_011508877.1:p.Gly2351= | |
| XM_017003304.1:c.7053A>G | XP_016858793.1:p.Gly2351= | |
| XM_024452684.1:c.8238A>G | XP_024308452.1:p.Gly2746= | |
| NM_004369.4:c.9459A>G MANE Select | NP_004360.2:p.Gly3153= | |
| NM_057166.5:c.7638A>G | NP_476507.3:p.Gly2546= | |
| NM_057167.4:c.8841A>G | NP_476508.2:p.Gly2947= |