Linked Data
ClinVar Variation Id:
628471
dbSNP Id:
rs199472747
ExAC:
11:2604682 C / T
gnomAD v2:
11-2604682-C-T
gnomAD v3:
11-2583452-C-T
gnomAD v4:
11-2583452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583452C>T , CM000673.2:g.2583452C>T | GRCh38 |
| NC_000011.9:g.2604682C>T , CM000673.1:g.2604682C>T | GRCh37 |
| NC_000011.8:g.2561258C>T | NCBI36 |
| NG_008935.1:g.143462C>T , LRG_287:g.143462C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.678C>T | ENSP00000434560.2:p.Ile226= | |
| ENST00000646564.2:c.495C>T | ENSP00000495806.2:p.Ile165= | |
| ENST00000155840.12:c.939C>T MANE Select | ENSP00000155840.2:p.Ile313= | |
| ENST00000335475.6:c.558C>T | ENSP00000334497.5:p.Ile186= | |
| ENST00000646564.1:c.141C>T | ENSP00000495806.1:p.Ile47= | |
| ENST00000155840.9:c.939C>T | ENSP00000155840.2:p.Ile313= | |
| ENST00000335475.5:c.558C>T | ENSP00000334497.5:p.Ile186= | |
| NM_000218.2:c.939C>T , LRG_287t1:c.939C>T | NP_000209.2:p.Ile313= | |
| NM_181798.1:c.558C>T , LRG_287t2:c.558C>T | NP_861463.1:p.Ile186= | |
| NM_000218.3:c.939C>T MANE Select | NP_000209.2:p.Ile313= |