Linked Data
ClinVar Variation Id:
258572
dbSNP Id:
rs2228208
ExAC:
11:68704493 G / A
gnomAD v2:
11-68704493-G-A
gnomAD v3:
11-68937025-G-A
gnomAD v4:
11-68937025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68937025G>A , CM000673.2:g.68937025G>A | GRCh38 |
| NC_000011.9:g.68704493G>A , CM000673.1:g.68704493G>A | GRCh37 |
| NC_000011.8:g.68461069G>A | NCBI36 |
| NG_007976.1:g.38175G>A , LRG_250:g.38175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2545G>A MANE Select | ENSP00000255078.4:p.Ala849Thr | |
| ENST00000674675.1:c.690G>A | ||
| ENST00000674878.1:c.650G>A | ||
| ENST00000675118.1:c.2033G>A | ||
| ENST00000675389.1:n.820G>A | ||
| ENST00000675615.1:c.2545G>A | ENSP00000502413.1:p.Ala849Thr | |
| ENST00000675648.1:n.1920G>A | ||
| ENST00000675916.1:c.789G>A | ||
| ENST00000676173.1:n.3290G>A | ||
| ENST00000676182.1:c.976G>A | ||
| ENST00000676228.1:c.*1868G>A | ENSP00000502375.1:n.*1868G>A | |
| ENST00000255078.7:c.2545G>A | ENSP00000255078.3:p.Ala849Thr | |
| ENST00000539064.5:n.2304G>A | ||
| ENST00000543739.5:n.1538G>A | ||
| NM_002180.2:c.2545G>A , LRG_250t1:c.2545G>A | NP_002171.2:p.Ala849Thr | |
| XM_005273974.2:c.1534G>A | XP_005274031.1:p.Ala512Thr | |
| XM_005273975.2:c.1417G>A | XP_005274032.1:p.Ala473Thr | |
| XM_011544994.1:c.1312G>A | XP_011543296.1:p.Ala438Thr | |
| XR_949903.1:n.2647G>A | ||
| XM_005273975.3:c.1417G>A | XP_005274032.1:p.Ala473Thr | |
| XM_017017669.2:c.1534G>A | XP_016873158.1:p.Ala512Thr | |
| XM_017017670.2:c.1534G>A | XP_016873159.1:p.Ala512Thr | |
| XR_949903.3:n.2643G>A | ||
| NM_002180.3:c.2545G>A MANE Select | NP_002171.2:p.Ala849Thr |