Linked Data
ClinVar Variation Id:
192260
dbSNP Id:
rs786205870
gnomAD v2:
2-238253001-C-T
gnomAD v3:
2-237344358-C-T
gnomAD v4:
2-237344358-C-T
PubMed:
PMID:26004199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344358C>T , CM000664.2:g.237344358C>T | GRCh38 |
| NC_000002.11:g.238253001C>T , CM000664.1:g.238253001C>T | GRCh37 |
| NC_000002.10:g.237917740C>T | NCBI36 |
| NG_008676.1:g.74850G>A , LRG_473:g.74850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.305G>A | ||
| ENST00000353578.9:c.7042G>A | ENSP00000315873.4:p.Ala2348Thr | |
| ENST00000295550.9:c.7660G>A MANE Select | ENSP00000295550.4:p.Ala2554Thr | |
| ENST00000295550.8:c.7660G>A | ENSP00000295550.4:p.Ala2554Thr | |
| ENST00000347401.7:c.5836G>A | ENSP00000315609.4:p.Ala1946Thr | |
| ENST00000353578.8:c.7042G>A | ENSP00000315873.4:p.Ala2348Thr | |
| ENST00000409809.5:c.7042G>A | ENSP00000386844.1:p.Ala2348Thr | |
| ENST00000472056.5:c.5839G>A | ENSP00000418285.1:p.Ala1947Thr | |
| ENST00000491769.1:n.1914G>A | ||
| NM_004369.3:c.7660G>A , LRG_473t1:c.7660G>A | NP_004360.2:p.Ala2554Thr | |
| NM_057166.4:c.5839G>A | NP_476507.3:p.Ala1947Thr | |
| NM_057167.3:c.7042G>A | NP_476508.2:p.Ala2348Thr | |
| XM_005246065.1:c.7060G>A | XP_005246122.1:p.Ala2354Thr | |
| XM_005246066.1:c.6439G>A | XP_005246123.1:p.Ala2147Thr | |
| XM_006712253.1:c.7159G>A | XP_006712316.1:p.Ala2387Thr | |
| XM_011510574.1:c.7657G>A | XP_011508876.1:p.Ala2553Thr | |
| XM_011510575.1:c.5254G>A | XP_011508877.1:p.Ala1752Thr | |
| XM_017003304.1:c.5254G>A | XP_016858793.1:p.Ala1752Thr | |
| XM_024452684.1:c.6439G>A | XP_024308452.1:p.Ala2147Thr | |
| NM_004369.4:c.7660G>A MANE Select | NP_004360.2:p.Ala2554Thr | |
| NM_057166.5:c.5839G>A | NP_476507.3:p.Ala1947Thr | |
| NM_057167.4:c.7042G>A | NP_476508.2:p.Ala2348Thr |