Linked Data
ClinVar Variation Id:
502546
dbSNP Id:
rs1439207088
gnomAD v2:
2-238253215-G-C
gnomAD v4:
2-237344572-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344572G>C , CM000664.2:g.237344572G>C | GRCh38 |
| NC_000002.11:g.238253215G>C , CM000664.1:g.238253215G>C | GRCh37 |
| NC_000002.10:g.237917954G>C | NCBI36 |
| NG_008676.1:g.74636C>G , LRG_473:g.74636C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.91C>G | ||
| ENST00000353578.9:c.6828C>G | ENSP00000315873.4:p.Ser2276= | |
| ENST00000295550.9:c.7446C>G MANE Select | ENSP00000295550.4:p.Ser2482= | |
| ENST00000295550.8:c.7446C>G | ENSP00000295550.4:p.Ser2482= | |
| ENST00000347401.7:c.5622C>G | ENSP00000315609.4:p.Ser1874= | |
| ENST00000353578.8:c.6828C>G | ENSP00000315873.4:p.Ser2276= | |
| ENST00000409809.5:c.6828C>G | ENSP00000386844.1:p.Ser2276= | |
| ENST00000472056.5:c.5625C>G | ENSP00000418285.1:p.Ser1875= | |
| ENST00000491769.1:n.1700C>G | ||
| NM_004369.3:c.7446C>G , LRG_473t1:c.7446C>G | NP_004360.2:p.Ser2482= | |
| NM_057166.4:c.5625C>G | NP_476507.3:p.Ser1875= | |
| NM_057167.3:c.6828C>G | NP_476508.2:p.Ser2276= | |
| XM_005246065.1:c.6846C>G | XP_005246122.1:p.Ser2282= | |
| XM_005246066.1:c.6225C>G | XP_005246123.1:p.Ser2075= | |
| XM_006712253.1:c.6945C>G | XP_006712316.1:p.Ser2315= | |
| XM_011510574.1:c.7443C>G | XP_011508876.1:p.Ser2481= | |
| XM_011510575.1:c.5040C>G | XP_011508877.1:p.Ser1680= | |
| XM_017003304.1:c.5040C>G | XP_016858793.1:p.Ser1680= | |
| XM_024452684.1:c.6225C>G | XP_024308452.1:p.Ser2075= | |
| NM_004369.4:c.7446C>G MANE Select | NP_004360.2:p.Ser2482= | |
| NM_057166.5:c.5625C>G | NP_476507.3:p.Ser1875= | |
| NM_057167.4:c.6828C>G | NP_476508.2:p.Ser2276= |