Linked Data
ClinVar Variation Id:
52744
ClinVar RCV Id:
RCV000045708
RCV000077459
RCV000129861
RCV000479673
RCV000657008
RCV004537211
RCV003492370
dbSNP Id:
rs80359162
ExAC:
13:32954019 C / T
gnomAD v2:
13-32954019-C-T
gnomAD v4:
13-32379882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379882C>T , CM000675.2:g.32379882C>T | GRCh38 |
| NC_000013.10:g.32954019C>T , CM000675.1:g.32954019C>T | GRCh37 |
| NC_000013.9:g.31852019C>T | NCBI36 |
| NG_012772.3:g.69403C>T , LRG_293:g.69403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9086C>T | ENSP00000434898.2:p.Ala3029Val | |
| ENST00000528762.2:c.*453C>T | ENSP00000433168.2:n.*453C>T | |
| ENST00000530893.7:c.8717C>T | ENSP00000499438.2:p.Ala2906Val | |
| ENST00000665585.2:c.*648C>T | ENSP00000499570.2:n.*648C>T | |
| ENST00000666593.2:c.9086C>T | ENSP00000499256.2:p.Ala3029Val | |
| ENST00000700202.2:c.9035C>T | ENSP00000514856.2:p.Ala3012Val | |
| ENST00000700202.1:c.1502C>T | ENSP00000514856.1:p.Ala501Val | |
| ENST00000700203.1:n.1213C>T | ||
| ENST00000380152.8:c.9086C>T MANE Select | ENSP00000369497.3:p.Ala3029Val | |
| ENST00000544455.6:c.9086C>T | ENSP00000439902.1:p.Ala3029Val | |
| ENST00000614259.2:c.9094C>T | ENSP00000506251.1:n.9094C>T | |
| ENST00000665585.1:c.1964C>T | ||
| ENST00000680887.1:c.9086C>T | ENSP00000505508.1:p.Ala3029Val | |
| ENST00000380152.7:c.9086C>T | ENSP00000369497.3:p.Ala3029Val | |
| ENST00000470094.1:c.43C>T | ||
| ENST00000544455.5:c.9086C>T | ENSP00000439902.1:p.Ala3029Val | |
| NM_000059.3:c.9086C>T , LRG_293t1:c.9086C>T | NP_000050.2:p.Ala3029Val | |
| XM_011535203.1:c.9086C>T | XP_011533505.1:p.Ala3029Val | |
| XM_011535204.1:c.8990C>T | XP_011533506.1:p.Ala2997Val | |
| NM_000059.4:c.9086C>T MANE Select | NP_000050.3:p.Ala3029Val |