Linked Data
ClinVar Variation Id:
285838
dbSNP Id:
rs368775789
ExAC:
11:68702871 C / T
gnomAD v2:
11-68702871-C-T
gnomAD v3:
11-68935403-C-T
gnomAD v4:
11-68935403-C-T
COSMIC:
COSM3870036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68935403C>T , CM000673.2:g.68935403C>T | GRCh38 |
| NC_000011.9:g.68702871C>T , CM000673.1:g.68702871C>T | GRCh37 |
| NC_000011.8:g.68459447C>T | NCBI36 |
| NG_007976.1:g.36553C>T , LRG_250:g.36553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1737C>T MANE Select | ENSP00000255078.4:p.Phe579= | |
| ENST00000674955.1:c.*454C>T | ENSP00000502463.1:n.*454C>T | |
| ENST00000675118.1:c.1225C>T | ||
| ENST00000675615.1:c.1737C>T | ENSP00000502413.1:p.Phe579= | |
| ENST00000675648.1:n.1112C>T | ||
| ENST00000676173.1:n.2482C>T | ||
| ENST00000676182.1:c.168C>T | ||
| ENST00000676228.1:c.*1060C>T | ENSP00000502375.1:n.*1060C>T | |
| ENST00000255078.7:c.1737C>T | ENSP00000255078.3:p.Phe579= | |
| ENST00000539064.5:n.1496C>T | ||
| ENST00000541229.5:n.432C>T | ||
| ENST00000543739.5:n.750-834C>T | ||
| ENST00000545475.1:n.333C>T | ||
| NM_002180.2:c.1737C>T , LRG_250t1:c.1737C>T | NP_002171.2:p.Phe579= | |
| XM_005273974.2:c.726C>T | XP_005274031.1:p.Phe242= | |
| XM_005273975.2:c.609C>T | XP_005274032.1:p.Phe203= | |
| XM_011544994.1:c.504C>T | XP_011543296.1:p.Phe168= | |
| XR_949903.1:n.1839C>T | ||
| XM_005273975.3:c.609C>T | XP_005274032.1:p.Phe203= | |
| XM_017017669.2:c.726C>T | XP_016873158.1:p.Phe242= | |
| XM_017017670.2:c.726C>T | XP_016873159.1:p.Phe242= | |
| XM_017017671.2:c.*64C>T | XP_016873160.1:n.*64C>T | |
| XR_949903.3:n.1835C>T | ||
| NM_002180.3:c.1737C>T MANE Select | NP_002171.2:p.Phe579= |