Linked Data
ClinVar Variation Id:
2688842
ClinVar RCV Id:
RCV003490615
dbSNP Id:
rs1352944056
gnomAD v2:
2-238245078-G-T
gnomAD v3:
2-237336435-G-T
gnomAD v4:
2-237336435-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237336435G>T , CM000664.2:g.237336435G>T | GRCh38 |
| NC_000002.11:g.238245078G>T , CM000664.1:g.238245078G>T | GRCh37 |
| NC_000002.10:g.237909817G>T | NCBI36 |
| NG_008676.1:g.82773C>A , LRG_473:g.82773C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1310C>A | ||
| ENST00000353578.9:c.8047C>A | ENSP00000315873.4:p.Pro2683Thr | |
| ENST00000682957.1:c.792C>A | ||
| ENST00000684508.1:n.932C>A | ||
| ENST00000295550.9:c.8665C>A MANE Select | ENSP00000295550.4:p.Pro2889Thr | |
| ENST00000295550.8:c.8665C>A | ENSP00000295550.4:p.Pro2889Thr | |
| ENST00000347401.7:c.6841C>A | ENSP00000315609.4:p.Pro2281Thr | |
| ENST00000353578.8:c.8047C>A | ENSP00000315873.4:p.Pro2683Thr | |
| ENST00000409809.5:c.8047C>A | ENSP00000386844.1:p.Pro2683Thr | |
| ENST00000472056.5:c.6844C>A | ENSP00000418285.1:p.Pro2282Thr | |
| ENST00000491769.1:n.5107C>A | ||
| NM_004369.3:c.8665C>A , LRG_473t1:c.8665C>A | NP_004360.2:p.Pro2889Thr | |
| NM_057166.4:c.6844C>A | NP_476507.3:p.Pro2282Thr | |
| NM_057167.3:c.8047C>A | NP_476508.2:p.Pro2683Thr | |
| XM_005246065.1:c.8065C>A | XP_005246122.1:p.Pro2689Thr | |
| XM_005246066.1:c.7444C>A | XP_005246123.1:p.Pro2482Thr | |
| XM_006712253.1:c.8164C>A | XP_006712316.1:p.Pro2722Thr | |
| XM_011510574.1:c.8662C>A | XP_011508876.1:p.Pro2888Thr | |
| XM_011510575.1:c.6259C>A | XP_011508877.1:p.Pro2087Thr | |
| XM_017003304.1:c.6259C>A | XP_016858793.1:p.Pro2087Thr | |
| XM_024452684.1:c.7444C>A | XP_024308452.1:p.Pro2482Thr | |
| NM_004369.4:c.8665C>A MANE Select | NP_004360.2:p.Pro2889Thr | |
| NM_057166.5:c.6844C>A | NP_476507.3:p.Pro2282Thr | |
| NM_057167.4:c.8047C>A | NP_476508.2:p.Pro2683Thr |