Linked Data
dbSNP Id:
rs780225737
ExAC:
12:25362816 A / T
gnomAD v2:
12-25362816-A-T
gnomAD v4:
12-25209882-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209882A>T , CM000674.2:g.25209882A>T | GRCh38 |
| NC_000012.11:g.25362816A>T , CM000674.1:g.25362816A>T | GRCh37 |
| NC_000012.10:g.25254083A>T | NCBI36 |
| NG_007524.1:g.46039T>A | |
| NG_007524.2:g.46122T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.141T>A | ENSP00000452512.1:p.Val47= | |
| ENST00000685328.1:c.480T>A | ENSP00000508921.1:p.Val160= | |
| ENST00000686877.1:c.*451T>A | ENSP00000510431.1:n.*451T>A | |
| ENST00000687356.1:c.*178T>A | ENSP00000510511.1:n.*178T>A | |
| ENST00000688228.1:n.954T>A | ||
| ENST00000688940.1:c.480T>A | ENSP00000509238.1:p.Val160= | |
| ENST00000690406.1:c.283T>A | ||
| ENST00000690804.1:c.*441T>A | ENSP00000508568.1:n.*441T>A | |
| ENST00000692768.1:c.282T>A | ENSP00000510254.1:p.Val94= | |
| ENST00000693229.1:c.405T>A | ENSP00000509223.1:p.Val135= | |
| ENST00000256078.10:c.*34T>A MANE Plus Clinical | ENSP00000256078.5:n.*34T>A | |
| ENST00000311936.8:c.480T>A MANE Select | ENSP00000308495.3:p.Val160= | |
| ENST00000256078.8:c.*34T>A | ENSP00000256078.4:n.*34T>A | |
| ENST00000311936.7:c.480T>A | ENSP00000308495.3:p.Val160= | |
| ENST00000557334.5:c.141T>A | ENSP00000452512.1:p.Val47= | |
| NM_004985.4:c.480T>A | NP_004976.2:p.Val160= | |
| NM_033360.3:c.*34T>A | NP_203524.1:n.*34T>A | |
| XM_006719069.2:c.*34T>A | XP_006719132.1:n.*34T>A | |
| XM_011520653.1:c.480T>A | XP_011518955.1:p.Val160= | |
| XM_006719069.4:c.*34T>A | XP_006719132.1:n.*34T>A | |
| XM_011520653.3:c.480T>A | XP_011518955.1:p.Val160= | |
| NM_001369786.1:c.*34T>A | NP_001356715.1:n.*34T>A | |
| NM_001369787.1:c.480T>A | NP_001356716.1:p.Val160= | |
| NM_004985.5:c.480T>A MANE Select | NP_004976.2:p.Val160= | |
| NM_033360.4:c.*34T>A MANE Plus Clinical | NP_203524.1:n.*34T>A |