Linked Data
dbSNP Id:
rs1370418311
gnomAD v2:
11-112064386-C-T
gnomAD v3:
11-112193663-C-T
gnomAD v4:
11-112193663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112193663C>T , CM000673.2:g.112193663C>T | GRCh38 |
| NC_000011.9:g.112064386C>T , CM000673.1:g.112064386C>T | GRCh37 |
| NC_000011.8:g.111569596C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357685.11:c.483C>T MANE Select | ENSP00000350314.5:p.Phe161= | |
| ENST00000357685.9:c.483C>T | ENSP00000350314.5:p.Phe161= | |
| ENST00000361053.8:c.483C>T | ENSP00000354338.4:p.Phe161= | |
| ENST00000438022.5:c.381C>T | ENSP00000414843.1:p.Phe127= | |
| ENST00000460924.6:n.575C>T | ||
| ENST00000494860.5:n.335C>T | ||
| ENST00000525987.5:n.826C>T | ||
| ENST00000526088.5:c.381C>T | ENSP00000436615.1:p.Phe127= | |
| ENST00000527939.1:c.*125C>T | ENSP00000436956.1:n.*125C>T | |
| ENST00000530677.1:c.190C>T | ||
| ENST00000531169.5:c.381C>T | ENSP00000437053.1:p.Phe127= | |
| ENST00000532593.5:c.168C>T | ENSP00000431802.1:p.Phe56= | |
| ENST00000532612.5:c.413C>T | ||
| ENST00000534122.5:n.1098C>T | ||
| ENST00000534550.5:c.*125C>T | ENSP00000434488.1:n.*125C>T | |
| NM_001037290.2:c.381C>T | NP_001032367.2:p.Phe127= | |
| NM_001256397.1:c.381C>T | NP_001243326.1:p.Phe127= | |
| NM_001256398.1:c.483C>T | NP_001243327.1:p.Phe161= | |
| NM_001256400.1:c.168C>T | NP_001243329.1:p.Phe56= | |
| NM_031938.5:c.483C>T | NP_114144.4:p.Phe161= | |
| NM_001037290.3:c.381C>T | NP_001032367.3:p.Phe127= | |
| NM_001256397.2:c.381C>T | NP_001243326.2:p.Phe127= | |
| NM_001256398.2:c.483C>T | NP_001243327.2:p.Phe161= | |
| NM_001256400.2:c.168C>T | NP_001243329.2:p.Phe56= | |
| NM_031938.7:c.483C>T MANE Select | NP_114144.5:p.Phe161= | |
| NM_001037290.4:c.381C>T | NP_001032367.3:p.Phe127= | |
| NM_001256397.3:c.381C>T | NP_001243326.2:p.Phe127= | |
| NM_001256398.3:c.483C>T | NP_001243327.2:p.Phe161= | |
| NM_001256400.3:c.168C>T | NP_001243329.2:p.Phe56= |