Linked Data
ClinVar Variation Id:
40091
dbSNP Id:
rs200035428
ExAC:
18:19438554 G / T
gnomAD v2:
18-19438554-G-T
gnomAD v3:
18-21858593-G-T
gnomAD v4:
18-21858593-G-T
PubMed:
PMID:23314057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21858593G>T , CM000680.2:g.21858593G>T | GRCh38 |
| NC_000018.9:g.19438554G>T , CM000680.1:g.19438554G>T | GRCh37 |
| NC_000018.8:g.17692552G>T | NCBI36 |
| NG_033272.2:g.158637G>T , LRG_759:g.158637G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695487.1:n.1156G>T | ||
| ENST00000261537.7:c.2827G>T MANE Select | ENSP00000261537.6:p.Val943Phe | |
| ENST00000261537.6:c.2827G>T | ENSP00000261537.6:p.Val943Phe | |
| ENST00000578646.5:n.2804G>T | ||
| NM_020774.3:c.2827G>T , LRG_759t1:c.2827G>T | NP_065825.1:p.Val943Phe | |
| XM_011526098.1:c.1357G>T | XP_011524400.1:p.Val453Phe | |
| XM_017025873.1:c.2311G>T | XP_016881362.1:p.Val771Phe | |
| NM_020774.4:c.2827G>T MANE Select | NP_065825.1:p.Val943Phe |