Linked Data
ClinVar Variation Id:
449408
dbSNP Id:
rs765561257
ExAC:
6:24495502 G / T
gnomAD v2:
6-24495502-G-T
gnomAD v3:
6-24495274-G-T
gnomAD v4:
6-24495274-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495274G>T , CM000668.2:g.24495274G>T | GRCh38 |
| NC_000006.11:g.24495502G>T , CM000668.1:g.24495502G>T | GRCh37 |
| NC_000006.10:g.24603481G>T | NCBI36 |
| NG_008161.1:g.5306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.278G>T MANE Select | ENSP00000350191.3:p.Cys93Phe | |
| ENST00000672352.1:c.41G>T | ENSP00000500876.1:p.Cys14Phe | |
| ENST00000672557.1:c.39G>T | ||
| ENST00000672652.1:c.199G>T | ||
| ENST00000348925.2:c.278G>T | ENSP00000314649.3:p.Cys93Phe | |
| ENST00000357578.7:c.278G>T | ENSP00000350191.3:p.Cys93Phe | |
| ENST00000491546.5:c.278G>T | ENSP00000417687.1:p.Cys93Phe | |
| NM_001080.3:c.278G>T MANE Select | NP_001071.1:p.Cys93Phe | |
| NM_170740.1:c.278G>T | NP_733936.1:p.Cys93Phe | |
| NM_001368954.1:c.278G>T | NP_001355883.1:p.Cys93Phe |