Linked Data
ClinVar Variation Id:
12587
ClinVar RCV Id:
RCV000013417
RCV000013418
RCV000157940
RCV000212501
RCV000507330
RCV000523200
RCV000763307
RCV000844634
RCV001267227
dbSNP Id:
rs104894360
COSMIC:
COSM1676793
PubMed:
PMID:16474404
PMID:16474405
PMID:16773572
PMID:17056636
PMID:17551339
PMID:17875937
PMID:18456719
PMID:20949621
PMID:25326637
ERepo:
CA256478/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209904T>A , CM000674.2:g.25209904T>A | GRCh38 |
| NC_000012.11:g.25362838T>A , CM000674.1:g.25362838T>A | GRCh37 |
| NC_000012.10:g.25254105T>A | NCBI36 |
| NG_007524.1:g.46017A>T | |
| NG_007524.2:g.46100A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.119A>T | ENSP00000452512.1:p.Asp40Val | |
| ENST00000685328.1:c.458A>T | ENSP00000508921.1:p.Asp153Val | |
| ENST00000686877.1:c.*429A>T | ENSP00000510431.1:n.*429A>T | |
| ENST00000687356.1:c.*156A>T | ENSP00000510511.1:n.*156A>T | |
| ENST00000688228.1:n.932A>T | ||
| ENST00000688940.1:c.458A>T | ENSP00000509238.1:p.Asp153Val | |
| ENST00000690406.1:c.261A>T | ||
| ENST00000690804.1:c.*419A>T | ENSP00000508568.1:n.*419A>T | |
| ENST00000692768.1:c.260A>T | ENSP00000510254.1:p.Asp87Val | |
| ENST00000693229.1:c.383A>T | ENSP00000509223.1:p.Asp128Val | |
| ENST00000256078.10:c.*12A>T MANE Plus Clinical | ENSP00000256078.5:n.*12A>T | |
| ENST00000311936.8:c.458A>T MANE Select | ENSP00000308495.3:p.Asp153Val | |
| ENST00000256078.8:c.*12A>T | ENSP00000256078.4:n.*12A>T | |
| ENST00000311936.7:c.458A>T | ENSP00000308495.3:p.Asp153Val | |
| ENST00000557334.5:c.119A>T | ENSP00000452512.1:p.Asp40Val | |
| NM_004985.4:c.458A>T | NP_004976.2:p.Asp153Val | |
| NM_033360.3:c.*12A>T | NP_203524.1:n.*12A>T | |
| XM_006719069.2:c.*12A>T | XP_006719132.1:n.*12A>T | |
| XM_011520653.1:c.458A>T | XP_011518955.1:p.Asp153Val | |
| XM_006719069.4:c.*12A>T | XP_006719132.1:n.*12A>T | |
| XM_011520653.3:c.458A>T | XP_011518955.1:p.Asp153Val | |
| NM_001369786.1:c.*12A>T | NP_001356715.1:n.*12A>T | |
| NM_001369787.1:c.458A>T | NP_001356716.1:p.Asp153Val | |
| NM_004985.5:c.458A>T MANE Select | NP_004976.2:p.Asp153Val | |
| NM_033360.4:c.*12A>T MANE Plus Clinical | NP_203524.1:n.*12A>T |