Linked Data
dbSNP Id:
rs374837817
ExAC:
11:112064377 T / C
gnomAD v2:
11-112064377-T-C
gnomAD v3:
11-112193654-T-C
gnomAD v4:
11-112193654-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112193654T>C , CM000673.2:g.112193654T>C | GRCh38 |
| NC_000011.9:g.112064377T>C , CM000673.1:g.112064377T>C | GRCh37 |
| NC_000011.8:g.111569587T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357685.11:c.474T>C MANE Select | ENSP00000350314.5:p.Phe158= | |
| ENST00000357685.9:c.474T>C | ENSP00000350314.5:p.Phe158= | |
| ENST00000361053.8:c.474T>C | ENSP00000354338.4:p.Phe158= | |
| ENST00000438022.5:c.372T>C | ENSP00000414843.1:p.Phe124= | |
| ENST00000460924.6:n.566T>C | ||
| ENST00000494860.5:n.326T>C | ||
| ENST00000525987.5:n.817T>C | ||
| ENST00000526088.5:c.372T>C | ENSP00000436615.1:p.Phe124= | |
| ENST00000527939.1:c.*116T>C | ENSP00000436956.1:n.*116T>C | |
| ENST00000530677.1:c.181T>C | ||
| ENST00000531169.5:c.372T>C | ENSP00000437053.1:p.Phe124= | |
| ENST00000532593.5:c.159T>C | ENSP00000431802.1:p.Phe53= | |
| ENST00000532612.5:c.404T>C | ||
| ENST00000534122.5:n.1089T>C | ||
| ENST00000534550.5:c.*116T>C | ENSP00000434488.1:n.*116T>C | |
| NM_001037290.2:c.372T>C | NP_001032367.2:p.Phe124= | |
| NM_001256397.1:c.372T>C | NP_001243326.1:p.Phe124= | |
| NM_001256398.1:c.474T>C | NP_001243327.1:p.Phe158= | |
| NM_001256400.1:c.159T>C | NP_001243329.1:p.Phe53= | |
| NM_031938.5:c.474T>C | NP_114144.4:p.Phe158= | |
| NM_001037290.3:c.372T>C | NP_001032367.3:p.Phe124= | |
| NM_001256397.2:c.372T>C | NP_001243326.2:p.Phe124= | |
| NM_001256398.2:c.474T>C | NP_001243327.2:p.Phe158= | |
| NM_001256400.2:c.159T>C | NP_001243329.2:p.Phe53= | |
| NM_031938.7:c.474T>C MANE Select | NP_114144.5:p.Phe158= | |
| NM_001037290.4:c.372T>C | NP_001032367.3:p.Phe124= | |
| NM_001256397.3:c.372T>C | NP_001243326.2:p.Phe124= | |
| NM_001256398.3:c.474T>C | NP_001243327.2:p.Phe158= | |
| NM_001256400.3:c.159T>C | NP_001243329.2:p.Phe53= |