Linked Data
ClinVar Variation Id:
196982
dbSNP Id:
rs201467603
ExAC:
2:238253220 T / C
gnomAD v2:
2-238253220-T-C
gnomAD v3:
2-237344577-T-C
gnomAD v4:
2-237344577-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344577T>C , CM000664.2:g.237344577T>C | GRCh38 |
| NC_000002.11:g.238253220T>C , CM000664.1:g.238253220T>C | GRCh37 |
| NC_000002.10:g.237917959T>C | NCBI36 |
| NG_008676.1:g.74631A>G , LRG_473:g.74631A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.86A>G | ||
| ENST00000353578.9:c.6823A>G | ENSP00000315873.4:p.Thr2275Ala | |
| ENST00000295550.9:c.7441A>G MANE Select | ENSP00000295550.4:p.Thr2481Ala | |
| ENST00000295550.8:c.7441A>G | ENSP00000295550.4:p.Thr2481Ala | |
| ENST00000347401.7:c.5617A>G | ENSP00000315609.4:p.Thr1873Ala | |
| ENST00000353578.8:c.6823A>G | ENSP00000315873.4:p.Thr2275Ala | |
| ENST00000409809.5:c.6823A>G | ENSP00000386844.1:p.Thr2275Ala | |
| ENST00000472056.5:c.5620A>G | ENSP00000418285.1:p.Thr1874Ala | |
| ENST00000491769.1:n.1695A>G | ||
| NM_004369.3:c.7441A>G , LRG_473t1:c.7441A>G | NP_004360.2:p.Thr2481Ala | |
| NM_057166.4:c.5620A>G | NP_476507.3:p.Thr1874Ala | |
| NM_057167.3:c.6823A>G | NP_476508.2:p.Thr2275Ala | |
| XM_005246065.1:c.6841A>G | XP_005246122.1:p.Thr2281Ala | |
| XM_005246066.1:c.6220A>G | XP_005246123.1:p.Thr2074Ala | |
| XM_006712253.1:c.6940A>G | XP_006712316.1:p.Thr2314Ala | |
| XM_011510574.1:c.7438A>G | XP_011508876.1:p.Thr2480Ala | |
| XM_011510575.1:c.5035A>G | XP_011508877.1:p.Thr1679Ala | |
| XM_017003304.1:c.5035A>G | XP_016858793.1:p.Thr1679Ala | |
| XM_024452684.1:c.6220A>G | XP_024308452.1:p.Thr2074Ala | |
| NM_004369.4:c.7441A>G MANE Select | NP_004360.2:p.Thr2481Ala | |
| NM_057166.5:c.5620A>G | NP_476507.3:p.Thr1874Ala | |
| NM_057167.4:c.6823A>G | NP_476508.2:p.Thr2275Ala |