Linked Data
ClinVar Variation Id:
140966
dbSNP Id:
rs587781402
gnomAD v2:
13-32900718-C-T
gnomAD v3:
13-32326581-C-T
gnomAD v4:
13-32326581-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32326581C>T , CM000675.2:g.32326581C>T | GRCh38 |
| NC_000013.10:g.32900718C>T , CM000675.1:g.32900718C>T | GRCh37 |
| NC_000013.9:g.31798718C>T | NCBI36 |
| NG_012772.3:g.16102C>T , LRG_293:g.16102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.599C>T | ENSP00000434898.2:p.Thr200Ile | |
| ENST00000528762.2:c.599C>T | ENSP00000433168.2:p.Thr200Ile | |
| ENST00000530893.7:c.230C>T | ENSP00000499438.2:p.Thr77Ile | |
| ENST00000665585.2:c.599C>T | ENSP00000499570.2:p.Thr200Ile | |
| ENST00000666593.2:c.599C>T | ENSP00000499256.2:p.Thr200Ile | |
| ENST00000700202.2:c.599C>T | ENSP00000514856.2:p.Thr200Ile | |
| ENST00000700200.1:n.470C>T | ||
| ENST00000700201.1:c.*378C>T | ENSP00000514855.1:n.*378C>T | |
| ENST00000380152.8:c.599C>T MANE Select | ENSP00000369497.3:p.Thr200Ile | |
| ENST00000544455.6:c.599C>T | ENSP00000439902.1:p.Thr200Ile | |
| ENST00000614259.2:c.599C>T | ENSP00000506251.1:p.Thr200Ile | |
| ENST00000680887.1:c.599C>T | ENSP00000505508.1:p.Thr200Ile | |
| ENST00000380152.7:c.599C>T | ENSP00000369497.3:p.Thr200Ile | |
| ENST00000530893.6:n.797C>T | ||
| ENST00000544455.5:c.599C>T | ENSP00000439902.1:p.Thr200Ile | |
| ENST00000614259.1:n.599C>T | ||
| NM_000059.3:c.599C>T , LRG_293t1:c.599C>T | NP_000050.2:p.Thr200Ile | |
| XM_011535203.1:c.599C>T | XP_011533505.1:p.Thr200Ile | |
| XM_011535204.1:c.599C>T | XP_011533506.1:p.Thr200Ile | |
| XM_011535205.1:c.599C>T | XP_011533507.1:p.Thr200Ile | |
| NM_000059.4:c.599C>T MANE Select | NP_000050.3:p.Thr200Ile |