Linked Data
ClinVar Variation Id:
214079
dbSNP Id:
rs142069429
ExAC:
7:141351366 C / T
gnomAD v2:
7-141351366-C-T
gnomAD v3:
7-141651566-C-T
gnomAD v4:
7-141651566-C-T
COSMIC:
COSM1086292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141651566C>T , CM000669.2:g.141651566C>T | GRCh38 |
| NC_000007.13:g.141351366C>T , CM000669.1:g.141351366C>T | GRCh37 |
| NC_000007.12:g.140997835C>T | NCBI36 |
| NG_032079.1:g.105289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.*1051C>T | ENSP00000497039.1:n.*1051C>T | |
| ENST00000648068.1:c.1088C>T | ENSP00000498112.1:p.Thr363Met | |
| ENST00000648395.1:c.812C>T | ENSP00000497666.1:p.Thr271Met | |
| ENST00000649014.1:c.*363C>T | ENSP00000497984.1:n.*363C>T | |
| ENST00000649286.2:c.1088C>T MANE Select | ENSP00000497280.1:p.Thr363Met | |
| ENST00000649365.1:c.*1096C>T | ENSP00000496835.1:n.*1096C>T | |
| ENST00000649790.1:c.*524C>T | ENSP00000498193.1:n.*524C>T | |
| ENST00000649914.1:c.1076C>T | ENSP00000497848.1:p.Thr359Met | |
| ENST00000650365.1:c.*973C>T | ENSP00000497358.1:n.*973C>T | |
| ENST00000650547.1:c.1088C>T | ENSP00000496789.1:p.Thr363Met | |
| ENST00000355413.8:c.1088C>T | ENSP00000347581.4:p.Thr363Met | |
| ENST00000473247.5:c.1004C>T | ENSP00000420776.1:p.Thr335Met | |
| ENST00000494053.1:n.245C>T | ||
| ENST00000494688.1:c.*193C>T | ENSP00000418101.1:n.*193C>T | |
| ENST00000629555.2:c.*193C>T | ENSP00000487274.1:n.*193C>T | |
| NM_018238.3:c.1088C>T | NP_060708.1:p.Thr363Met | |
| XM_011516397.1:c.1088C>T | XP_011514699.1:p.Thr363Met | |
| NM_018238.4:c.1088C>T MANE Select | NP_060708.1:p.Thr363Met | |
| XM_011516397.3:c.1088C>T | XP_011514699.1:p.Thr363Met | |
| XM_024446835.1:c.1088C>T | XP_024302603.1:p.Thr363Met |