Linked Data
ClinVar Variation Id:
1399982
dbSNP Id:
rs765812583
ExAC:
2:238245083 G / A
gnomAD v2:
2-238245083-G-A
gnomAD v3:
2-237336440-G-A
gnomAD v4:
2-237336440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336440G>A , CM000664.2:g.237336440G>A | GRCh38 |
| NC_000002.11:g.238245083G>A , CM000664.1:g.238245083G>A | GRCh37 |
| NC_000002.10:g.237909822G>A | NCBI36 |
| NG_008676.1:g.82768C>T , LRG_473:g.82768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1305C>T | ||
| ENST00000353578.9:c.8042C>T | ENSP00000315873.4:p.Thr2681Ile | |
| ENST00000682957.1:c.787C>T | ||
| ENST00000684508.1:n.927C>T | ||
| ENST00000295550.9:c.8660C>T MANE Select | ENSP00000295550.4:p.Thr2887Ile | |
| ENST00000295550.8:c.8660C>T | ENSP00000295550.4:p.Thr2887Ile | |
| ENST00000347401.7:c.6836C>T | ENSP00000315609.4:p.Thr2279Ile | |
| ENST00000353578.8:c.8042C>T | ENSP00000315873.4:p.Thr2681Ile | |
| ENST00000409809.5:c.8042C>T | ENSP00000386844.1:p.Thr2681Ile | |
| ENST00000472056.5:c.6839C>T | ENSP00000418285.1:p.Thr2280Ile | |
| ENST00000491769.1:n.5102C>T | ||
| NM_004369.3:c.8660C>T , LRG_473t1:c.8660C>T | NP_004360.2:p.Thr2887Ile | |
| NM_057166.4:c.6839C>T | NP_476507.3:p.Thr2280Ile | |
| NM_057167.3:c.8042C>T | NP_476508.2:p.Thr2681Ile | |
| XM_005246065.1:c.8060C>T | XP_005246122.1:p.Thr2687Ile | |
| XM_005246066.1:c.7439C>T | XP_005246123.1:p.Thr2480Ile | |
| XM_006712253.1:c.8159C>T | XP_006712316.1:p.Thr2720Ile | |
| XM_011510574.1:c.8657C>T | XP_011508876.1:p.Thr2886Ile | |
| XM_011510575.1:c.6254C>T | XP_011508877.1:p.Thr2085Ile | |
| XM_017003304.1:c.6254C>T | XP_016858793.1:p.Thr2085Ile | |
| XM_024452684.1:c.7439C>T | XP_024308452.1:p.Thr2480Ile | |
| NM_004369.4:c.8660C>T MANE Select | NP_004360.2:p.Thr2887Ile | |
| NM_057166.5:c.6839C>T | NP_476507.3:p.Thr2280Ile | |
| NM_057167.4:c.8042C>T | NP_476508.2:p.Thr2681Ile |