Linked Data
ClinVar Variation Id:
356281
dbSNP Id:
rs117905900
ExAC:
6:31915819 C / T
gnomAD v2:
6-31915819-C-T
gnomAD v3:
6-31948042-C-T
gnomAD v4:
6-31948042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31948042C>T , CM000668.2:g.31948042C>T | GRCh38 |
| NC_000006.11:g.31915819C>T , CM000668.1:g.31915819C>T | GRCh37 |
| NC_000006.10:g.32023798C>T | NCBI36 |
| NG_008191.1:g.7099C>T , LRG_136:g.7099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.1035C>T | ||
| ENST00000483004.2:c.858C>T | ENSP00000419887.2:p.Phe286= | |
| ENST00000497841.6:c.858C>T | ENSP00000513847.1:p.Phe286= | |
| ENST00000698628.1:c.858C>T | ENSP00000513848.1:p.Phe286= | |
| ENST00000698629.1:n.1035C>T | ||
| ENST00000698630.1:n.1574C>T | ||
| ENST00000698631.1:n.1414C>T | ||
| ENST00000698632.1:n.1862C>T | ||
| ENST00000698633.1:n.1677C>T | ||
| ENST00000698636.1:n.1080C>T | ||
| ENST00000425368.7:c.858C>T MANE Select | ENSP00000416561.2:p.Phe286= | |
| ENST00000425368.6:c.858C>T | ENSP00000416561.2:p.Phe286= | |
| ENST00000452035.6:n.858C>T | ||
| ENST00000456570.5:c.2364C>T | ENSP00000410815.1:p.Phe788= | |
| ENST00000461483.5:n.441C>T | ||
| ENST00000477310.1:c.1911C>T | ENSP00000418996.1:p.Phe637= | |
| ENST00000497841.5:n.145C>T | ||
| NM_001710.5:c.858C>T , LRG_136t1:c.858C>T | NP_001701.2:p.Phe286= | |
| NM_001710.6:c.858C>T MANE Select | NP_001701.2:p.Phe286= |