Linked Data
ClinVar Variation Id:
289020
dbSNP Id:
rs572018781
gnomAD v2:
2-238249153-G-A
gnomAD v3:
2-237340510-G-A
gnomAD v4:
2-237340510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340510G>A , CM000664.2:g.237340510G>A | GRCh38 |
| NC_000002.11:g.238249153G>A , CM000664.1:g.238249153G>A | GRCh37 |
| NC_000002.10:g.237913892G>A | NCBI36 |
| NG_008676.1:g.78698C>T , LRG_473:g.78698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1051C>T | ||
| ENST00000353578.9:c.7788C>T | ENSP00000315873.4:p.Thr2596= | |
| ENST00000682957.1:c.409C>T | ||
| ENST00000684508.1:n.673C>T | ||
| ENST00000295550.9:c.8406C>T MANE Select | ENSP00000295550.4:p.Thr2802= | |
| ENST00000295550.8:c.8406C>T | ENSP00000295550.4:p.Thr2802= | |
| ENST00000347401.7:c.6582C>T | ENSP00000315609.4:p.Thr2194= | |
| ENST00000353578.8:c.7788C>T | ENSP00000315873.4:p.Thr2596= | |
| ENST00000409809.5:c.7788C>T | ENSP00000386844.1:p.Thr2596= | |
| ENST00000468792.1:n.93C>T | ||
| ENST00000472056.5:c.6585C>T | ENSP00000418285.1:p.Thr2195= | |
| ENST00000491769.1:n.4848C>T | ||
| NM_004369.3:c.8406C>T , LRG_473t1:c.8406C>T | NP_004360.2:p.Thr2802= | |
| NM_057166.4:c.6585C>T | NP_476507.3:p.Thr2195= | |
| NM_057167.3:c.7788C>T | NP_476508.2:p.Thr2596= | |
| XM_005246065.1:c.7806C>T | XP_005246122.1:p.Thr2602= | |
| XM_005246066.1:c.7185C>T | XP_005246123.1:p.Thr2395= | |
| XM_006712253.1:c.7905C>T | XP_006712316.1:p.Thr2635= | |
| XM_011510574.1:c.8403C>T | XP_011508876.1:p.Thr2801= | |
| XM_011510575.1:c.6000C>T | XP_011508877.1:p.Thr2000= | |
| XM_017003304.1:c.6000C>T | XP_016858793.1:p.Thr2000= | |
| XM_024452684.1:c.7185C>T | XP_024308452.1:p.Thr2395= | |
| NM_004369.4:c.8406C>T MANE Select | NP_004360.2:p.Thr2802= | |
| NM_057166.5:c.6585C>T | NP_476507.3:p.Thr2195= | |
| NM_057167.4:c.7788C>T | NP_476508.2:p.Thr2596= |