Linked Data
ClinVar Variation Id:
375962
ClinVar RCV Id:
RCV000423608
RCV000434735
RCV000441300
RCV000791299
RCV001839452
RCV002524688
RCV003332167
RCV003488585
dbSNP Id:
rs1057519725
gnomAD v3:
12-25225627-G-A
gnomAD v4:
12-25225627-G-A
CIViC:
CA16602440
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225627G>A , CM000674.2:g.25225627G>A | GRCh38 |
| NC_000012.11:g.25378561G>A , CM000674.1:g.25378561G>A | GRCh37 |
| NC_000012.10:g.25269828G>A | NCBI36 |
| NG_007524.1:g.30294C>T | |
| NG_007524.2:g.30377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15716C>T | ENSP00000452512.1:n.112-15716C>T | |
| ENST00000685328.1:c.437C>T | ENSP00000508921.1:p.Ala146Val | |
| ENST00000686877.1:c.*408C>T | ENSP00000510431.1:n.*408C>T | |
| ENST00000687356.1:c.*135C>T | ENSP00000510511.1:n.*135C>T | |
| ENST00000688228.1:n.911C>T | ||
| ENST00000688940.1:c.437C>T | ENSP00000509238.1:p.Ala146Val | |
| ENST00000690406.1:c.147C>T | ||
| ENST00000690804.1:c.*398C>T | ENSP00000508568.1:n.*398C>T | |
| ENST00000692768.1:c.239C>T | ENSP00000510254.1:p.Ala80Val | |
| ENST00000693229.1:c.362C>T | ENSP00000509223.1:p.Ala121Val | |
| ENST00000256078.10:c.437C>T MANE Plus Clinical | ENSP00000256078.5:p.Ala146Val | |
| ENST00000311936.8:c.437C>T MANE Select | ENSP00000308495.3:p.Ala146Val | |
| ENST00000256078.8:c.437C>T | ENSP00000256078.4:p.Ala146Val | |
| ENST00000311936.7:c.437C>T | ENSP00000308495.3:p.Ala146Val | |
| ENST00000557334.5:c.112-15716C>T | ENSP00000452512.1:n.112-15716C>T | |
| NM_004985.4:c.437C>T | NP_004976.2:p.Ala146Val | |
| NM_033360.3:c.437C>T | NP_203524.1:p.Ala146Val | |
| XM_006719069.2:c.437C>T | XP_006719132.1:p.Ala146Val | |
| XM_011520653.1:c.437C>T | XP_011518955.1:p.Ala146Val | |
| XM_006719069.4:c.437C>T | XP_006719132.1:p.Ala146Val | |
| XM_011520653.3:c.437C>T | XP_011518955.1:p.Ala146Val | |
| NM_001369786.1:c.437C>T | NP_001356715.1:p.Ala146Val | |
| NM_001369787.1:c.437C>T | NP_001356716.1:p.Ala146Val | |
| NM_004985.5:c.437C>T MANE Select | NP_004976.2:p.Ala146Val | |
| NM_033360.4:c.437C>T MANE Plus Clinical | NP_203524.1:p.Ala146Val |