Linked Data
ClinVar Variation Id:
427453
dbSNP Id:
rs757664122
ExAC:
13:32972479 C / T
gnomAD v2:
13-32972479-C-T
gnomAD v4:
13-32398342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398342C>T , CM000675.2:g.32398342C>T | GRCh38 |
| NC_000013.10:g.32972479C>T , CM000675.1:g.32972479C>T | GRCh37 |
| NC_000013.9:g.31870479C>T | NCBI36 |
| NG_012772.3:g.87863C>T , LRG_293:g.87863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*352C>T | ENSP00000434898.2:n.*352C>T | |
| ENST00000528762.2:c.*1196C>T | ENSP00000433168.2:n.*1196C>T | |
| ENST00000530893.7:c.9460C>T | ENSP00000499438.2:p.Leu3154= | |
| ENST00000665585.2:c.*1391C>T | ENSP00000499570.2:n.*1391C>T | |
| ENST00000700202.2:c.9778C>T | ENSP00000514856.2:p.Leu3260= | |
| ENST00000700202.1:c.2245C>T | ENSP00000514856.1:p.Leu749= | |
| ENST00000700203.1:n.1956C>T | ||
| ENST00000380152.8:c.9829C>T MANE Select | ENSP00000369497.3:p.Leu3277= | |
| ENST00000544455.6:c.9829C>T | ENSP00000439902.1:p.Leu3277= | |
| ENST00000614259.2:c.9837C>T | ENSP00000506251.1:n.9837C>T | |
| ENST00000680887.1:c.9829C>T | ENSP00000505508.1:p.Leu3277= | |
| ENST00000380152.7:c.9829C>T | ENSP00000369497.3:p.Leu3277= | |
| ENST00000533776.1:n.417C>T | ||
| ENST00000544455.5:c.9829C>T | ENSP00000439902.1:p.Leu3277= | |
| NM_000059.3:c.9829C>T , LRG_293t1:c.9829C>T | NP_000050.2:p.Leu3277= | |
| XM_011535203.1:c.9829C>T | XP_011533505.1:p.Leu3277= | |
| XM_011535204.1:c.9733C>T | XP_011533506.1:p.Leu3245= | |
| NM_000059.4:c.9829C>T MANE Select | NP_000050.3:p.Leu3277= |