Linked Data
ClinVar Variation Id:
184877
dbSNP Id:
rs113507014
ExAC:
13:32972673 C / T
gnomAD v2:
13-32972673-C-T
gnomAD v3:
13-32398536-C-T
gnomAD v4:
13-32398536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398536C>T , CM000675.2:g.32398536C>T | GRCh38 |
| NC_000013.10:g.32972673C>T , CM000675.1:g.32972673C>T | GRCh37 |
| NC_000013.9:g.31870673C>T | NCBI36 |
| NG_012772.3:g.88057C>T , LRG_293:g.88057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*546C>T | ENSP00000434898.2:n.*546C>T | |
| ENST00000528762.2:c.*1390C>T | ENSP00000433168.2:n.*1390C>T | |
| ENST00000530893.7:c.9654C>T | ENSP00000499438.2:p.Asp3218= | |
| ENST00000665585.2:c.*1585C>T | ENSP00000499570.2:n.*1585C>T | |
| ENST00000700202.2:c.9972C>T | ENSP00000514856.2:p.Asp3324= | |
| ENST00000700202.1:c.2439C>T | ENSP00000514856.1:p.Asp813= | |
| ENST00000700203.1:n.2150C>T | ||
| ENST00000380152.8:c.10023C>T MANE Select | ENSP00000369497.3:p.Asp3341= | |
| ENST00000544455.6:c.10023C>T | ENSP00000439902.1:p.Asp3341= | |
| ENST00000614259.2:c.10031C>T | ENSP00000506251.1:n.10031C>T | |
| ENST00000680887.1:c.10023C>T | ENSP00000505508.1:p.Asp3341= | |
| ENST00000380152.7:c.10023C>T | ENSP00000369497.3:p.Asp3341= | |
| ENST00000544455.5:c.10023C>T | ENSP00000439902.1:p.Asp3341= | |
| NM_000059.3:c.10023C>T , LRG_293t1:c.10023C>T | NP_000050.2:p.Asp3341= | |
| XM_011535203.1:c.10023C>T | XP_011533505.1:p.Asp3341= | |
| XM_011535204.1:c.9927C>T | XP_011533506.1:p.Asp3309= | |
| NM_000059.4:c.10023C>T MANE Select | NP_000050.3:p.Asp3341= |