Linked Data
ClinVar Variation Id:
38231
dbSNP Id:
rs397507425
ExAC:
13:32968889 T / C
gnomAD v2:
13-32968889-T-C
gnomAD v4:
13-32394752-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394752T>C , CM000675.2:g.32394752T>C | GRCh38 |
| NC_000013.10:g.32968889T>C , CM000675.1:g.32968889T>C | GRCh37 |
| NC_000013.9:g.31866889T>C | NCBI36 |
| NG_012772.3:g.84273T>C , LRG_293:g.84273T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9320T>C | ENSP00000434898.2:p.Ile3107Thr | |
| ENST00000528762.2:c.*687T>C | ENSP00000433168.2:n.*687T>C | |
| ENST00000530893.7:c.8951T>C | ENSP00000499438.2:p.Ile2984Thr | |
| ENST00000665585.2:c.*882T>C | ENSP00000499570.2:n.*882T>C | |
| ENST00000666593.2:c.*165T>C | ENSP00000499256.2:n.*165T>C | |
| ENST00000700202.2:c.9269T>C | ENSP00000514856.2:p.Ile3090Thr | |
| ENST00000700202.1:c.1736T>C | ENSP00000514856.1:p.Ile579Thr | |
| ENST00000700203.1:n.1447T>C | ||
| ENST00000380152.8:c.9320T>C MANE Select | ENSP00000369497.3:p.Ile3107Thr | |
| ENST00000544455.6:c.9320T>C | ENSP00000439902.1:p.Ile3107Thr | |
| ENST00000614259.2:c.9328T>C | ENSP00000506251.1:n.9328T>C | |
| ENST00000665585.1:c.2198T>C | ||
| ENST00000666593.1:c.342T>C | ENSP00000499256.1:n.342T>C | |
| ENST00000680887.1:c.9320T>C | ENSP00000505508.1:p.Ile3107Thr | |
| ENST00000380152.7:c.9320T>C | ENSP00000369497.3:p.Ile3107Thr | |
| ENST00000470094.1:c.277T>C | ||
| ENST00000544455.5:c.9320T>C | ENSP00000439902.1:p.Ile3107Thr | |
| NM_000059.3:c.9320T>C , LRG_293t1:c.9320T>C | NP_000050.2:p.Ile3107Thr | |
| XM_011535203.1:c.9320T>C | XP_011533505.1:p.Ile3107Thr | |
| XM_011535204.1:c.9224T>C | XP_011533506.1:p.Ile3075Thr | |
| NM_000059.4:c.9320T>C MANE Select | NP_000050.3:p.Ile3107Thr |