Linked Data
ClinVar Variation Id:
744141
dbSNP Id:
rs370367228
ExAC:
11:68701323 C / T
gnomAD v2:
11-68701323-C-T
gnomAD v3:
11-68933855-C-T
gnomAD v4:
11-68933855-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933855C>T , CM000673.2:g.68933855C>T | GRCh38 |
| NC_000011.9:g.68701323C>T , CM000673.1:g.68701323C>T | GRCh37 |
| NC_000011.8:g.68457899C>T | NCBI36 |
| NG_007976.1:g.35005C>T , LRG_250:g.35005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1479C>T MANE Select | ENSP00000255078.4:p.Thr493= | |
| ENST00000674955.1:c.*196C>T | ENSP00000502463.1:n.*196C>T | |
| ENST00000675118.1:c.967C>T | ||
| ENST00000675205.1:n.183+374C>T | ||
| ENST00000675615.1:c.1479C>T | ENSP00000502413.1:p.Thr493= | |
| ENST00000675648.1:n.854C>T | ||
| ENST00000675997.1:n.113-609C>T | ||
| ENST00000676173.1:n.2224C>T | ||
| ENST00000676228.1:c.*802C>T | ENSP00000502375.1:n.*802C>T | |
| ENST00000255078.7:c.1479C>T | ENSP00000255078.3:p.Thr493= | |
| ENST00000537458.5:n.596C>T | ||
| ENST00000539064.5:n.1238C>T | ||
| ENST00000541229.5:n.174C>T | ||
| ENST00000543739.5:n.596C>T | ||
| NM_002180.2:c.1479C>T , LRG_250t1:c.1479C>T | NP_002171.2:p.Thr493= | |
| XM_005273974.2:c.468C>T | XP_005274031.1:p.Thr156= | |
| XM_005273975.2:c.351C>T | XP_005274032.1:p.Thr117= | |
| XM_011544994.1:c.246C>T | XP_011543296.1:p.Thr82= | |
| XR_949903.1:n.1581C>T | ||
| XM_005273975.3:c.351C>T | XP_005274032.1:p.Thr117= | |
| XM_017017669.2:c.468C>T | XP_016873158.1:p.Thr156= | |
| XM_017017670.2:c.468C>T | XP_016873159.1:p.Thr156= | |
| XM_017017671.2:c.1479C>T | XP_016873160.1:p.Thr493= | |
| XR_949903.3:n.1577C>T | ||
| NM_002180.3:c.1479C>T MANE Select | NP_002171.2:p.Thr493= |