Linked Data
ClinVar Variation Id:
14111
dbSNP Id:
rs121913644
ExAC:
14:23895007 G / A
gnomAD v2:
14-23895007-G-A
gnomAD v3:
14-23425798-G-A
gnomAD v4:
14-23425798-G-A
COSMIC:
COSM404544
PubMed:
PMID:11424919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23425798G>A , CM000676.2:g.23425798G>A | GRCh38 |
| NC_000014.8:g.23895007G>A , CM000676.1:g.23895007G>A | GRCh37 |
| NC_000014.7:g.22964847G>A | NCBI36 |
| NG_007884.1:g.14864C>T , LRG_384:g.14864C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.2183C>T MANE Select | ENSP00000347507.3:p.Ala728Val | |
| ENST00000355349.3:c.2183C>T | ENSP00000347507.3:p.Ala728Val | |
| NM_000257.3:c.2183C>T | NP_000248.2:p.Ala728Val | |
| XR_245686.3:n.2289C>T | ||
| XM_017021340.1:c.2183C>T | XP_016876829.1:p.Ala728Val | |
| NM_000257.4:c.2183C>T MANE Select | NP_000248.2:p.Ala728Val |