Linked Data
dbSNP Id:
rs756931727
ExAC:
11:112064233 C / T
gnomAD v2:
11-112064233-C-T
gnomAD v4:
11-112193510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112193510C>T , CM000673.2:g.112193510C>T | GRCh38 |
| NC_000011.9:g.112064233C>T , CM000673.1:g.112064233C>T | GRCh37 |
| NC_000011.8:g.111569443C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357685.11:c.330C>T MANE Select | ENSP00000350314.5:p.His110= | |
| ENST00000357685.9:c.330C>T | ENSP00000350314.5:p.His110= | |
| ENST00000361053.8:c.330C>T | ENSP00000354338.4:p.His110= | |
| ENST00000438022.5:c.228C>T | ENSP00000414843.1:p.His76= | |
| ENST00000460924.6:n.422C>T | ||
| ENST00000494860.5:n.182C>T | ||
| ENST00000525468.1:n.319C>T | ||
| ENST00000525987.5:n.673C>T | ||
| ENST00000526088.5:c.228C>T | ENSP00000436615.1:p.His76= | |
| ENST00000527939.1:c.125C>T | ENSP00000436956.1:p.Thr42Ile | |
| ENST00000530677.1:c.37C>T | ||
| ENST00000531003.1:c.*120C>T | ENSP00000435869.1:n.*120C>T | |
| ENST00000531169.5:c.228C>T | ENSP00000437053.1:p.His76= | |
| ENST00000532593.5:c.15C>T | ENSP00000431802.1:p.His5= | |
| ENST00000532612.5:c.260C>T | ||
| ENST00000532699.1:c.*92C>T | ENSP00000456434.1:n.*92C>T | |
| ENST00000534122.5:n.945C>T | ||
| ENST00000534550.5:c.125C>T | ENSP00000434488.1:p.Thr42Ile | |
| NM_001037290.2:c.228C>T | NP_001032367.2:p.His76= | |
| NM_001256397.1:c.228C>T | NP_001243326.1:p.His76= | |
| NM_001256398.1:c.330C>T | NP_001243327.1:p.His110= | |
| NM_001256400.1:c.15C>T | NP_001243329.1:p.His5= | |
| NM_031938.5:c.330C>T | NP_114144.4:p.His110= | |
| NM_001037290.3:c.228C>T | NP_001032367.3:p.His76= | |
| NM_001256397.2:c.228C>T | NP_001243326.2:p.His76= | |
| NM_001256398.2:c.330C>T | NP_001243327.2:p.His110= | |
| NM_001256400.2:c.15C>T | NP_001243329.2:p.His5= | |
| NM_031938.7:c.330C>T MANE Select | NP_114144.5:p.His110= | |
| NM_001037290.4:c.228C>T | NP_001032367.3:p.His76= | |
| NM_001256397.3:c.228C>T | NP_001243326.2:p.His76= | |
| NM_001256398.3:c.330C>T | NP_001243327.2:p.His110= | |
| NM_001256400.3:c.15C>T | NP_001243329.2:p.His5= |