Linked Data
ClinVar Variation Id:
641497
dbSNP Id:
rs1170552394
gnomAD v2:
11-68701295-C-T
gnomAD v3:
11-68933827-C-T
gnomAD v4:
11-68933827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933827C>T , CM000673.2:g.68933827C>T | GRCh38 |
| NC_000011.9:g.68701295C>T , CM000673.1:g.68701295C>T | GRCh37 |
| NC_000011.8:g.68457871C>T | NCBI36 |
| NG_007976.1:g.34977C>T , LRG_250:g.34977C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1451C>T MANE Select | ENSP00000255078.4:p.Thr484Met | |
| ENST00000674955.1:c.*168C>T | ENSP00000502463.1:n.*168C>T | |
| ENST00000675118.1:c.939C>T | ||
| ENST00000675205.1:n.183+346C>T | ||
| ENST00000675615.1:c.1451C>T | ENSP00000502413.1:p.Thr484Met | |
| ENST00000675648.1:n.826C>T | ||
| ENST00000675997.1:n.113-637C>T | ||
| ENST00000676173.1:n.2196C>T | ||
| ENST00000676228.1:c.*774C>T | ENSP00000502375.1:n.*774C>T | |
| ENST00000255078.7:c.1451C>T | ENSP00000255078.3:p.Thr484Met | |
| ENST00000537458.5:n.568C>T | ||
| ENST00000539064.5:n.1210C>T | ||
| ENST00000541229.5:n.146C>T | ||
| ENST00000543739.5:n.568C>T | ||
| NM_002180.2:c.1451C>T , LRG_250t1:c.1451C>T | NP_002171.2:p.Thr484Met | |
| XM_005273974.2:c.440C>T | XP_005274031.1:p.Thr147Met | |
| XM_005273975.2:c.323C>T | XP_005274032.1:p.Thr108Met | |
| XM_011544994.1:c.218C>T | XP_011543296.1:p.Thr73Met | |
| XR_949903.1:n.1553C>T | ||
| XM_005273975.3:c.323C>T | XP_005274032.1:p.Thr108Met | |
| XM_017017669.2:c.440C>T | XP_016873158.1:p.Thr147Met | |
| XM_017017670.2:c.440C>T | XP_016873159.1:p.Thr147Met | |
| XM_017017671.2:c.1451C>T | XP_016873160.1:p.Thr484Met | |
| XR_949903.3:n.1549C>T | ||
| NM_002180.3:c.1451C>T MANE Select | NP_002171.2:p.Thr484Met |