Linked Data
ClinVar Variation Id:
308124
dbSNP Id:
rs779184057
ExAC:
12:25362834 A / G
gnomAD v2:
12-25362834-A-G
gnomAD v3:
12-25209900-A-G
gnomAD v4:
12-25209900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209900A>G , CM000674.2:g.25209900A>G | GRCh38 |
| NC_000012.11:g.25362834A>G , CM000674.1:g.25362834A>G | GRCh37 |
| NC_000012.10:g.25254101A>G | NCBI36 |
| NG_007524.1:g.46021T>C | |
| NG_007524.2:g.46104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.123T>C | ENSP00000452512.1:p.Asp41= | |
| ENST00000685328.1:c.462T>C | ENSP00000508921.1:p.Asp154= | |
| ENST00000686877.1:c.*433T>C | ENSP00000510431.1:n.*433T>C | |
| ENST00000687356.1:c.*160T>C | ENSP00000510511.1:n.*160T>C | |
| ENST00000688228.1:n.936T>C | ||
| ENST00000688940.1:c.462T>C | ENSP00000509238.1:p.Asp154= | |
| ENST00000690406.1:c.265T>C | ||
| ENST00000690804.1:c.*423T>C | ENSP00000508568.1:n.*423T>C | |
| ENST00000692768.1:c.264T>C | ENSP00000510254.1:p.Asp88= | |
| ENST00000693229.1:c.387T>C | ENSP00000509223.1:p.Asp129= | |
| ENST00000256078.10:c.*16T>C MANE Plus Clinical | ENSP00000256078.5:n.*16T>C | |
| ENST00000311936.8:c.462T>C MANE Select | ENSP00000308495.3:p.Asp154= | |
| ENST00000256078.8:c.*16T>C | ENSP00000256078.4:n.*16T>C | |
| ENST00000311936.7:c.462T>C | ENSP00000308495.3:p.Asp154= | |
| ENST00000557334.5:c.123T>C | ENSP00000452512.1:p.Asp41= | |
| NM_004985.4:c.462T>C | NP_004976.2:p.Asp154= | |
| NM_033360.3:c.*16T>C | NP_203524.1:n.*16T>C | |
| XM_006719069.2:c.*16T>C | XP_006719132.1:n.*16T>C | |
| XM_011520653.1:c.462T>C | XP_011518955.1:p.Asp154= | |
| XM_006719069.4:c.*16T>C | XP_006719132.1:n.*16T>C | |
| XM_011520653.3:c.462T>C | XP_011518955.1:p.Asp154= | |
| NM_001369786.1:c.*16T>C | NP_001356715.1:n.*16T>C | |
| NM_001369787.1:c.462T>C | NP_001356716.1:p.Asp154= | |
| NM_004985.5:c.462T>C MANE Select | NP_004976.2:p.Asp154= | |
| NM_033360.4:c.*16T>C MANE Plus Clinical | NP_203524.1:n.*16T>C |