Linked Data
ClinVar Variation Id:
418364
dbSNP Id:
rs763326046
ExAC:
14:23887579 G / A
gnomAD v2:
14-23887579-G-A
gnomAD v3:
14-23418370-G-A
gnomAD v4:
14-23418370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23418370G>A , CM000676.2:g.23418370G>A | GRCh38 |
| NC_000014.8:g.23887579G>A , CM000676.1:g.23887579G>A | GRCh37 |
| NC_000014.7:g.22957419G>A | NCBI36 |
| NG_007884.1:g.22292C>T , LRG_384:g.22292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4009C>T MANE Select | ENSP00000347507.3:p.Arg1337Trp | |
| ENST00000355349.3:c.4009C>T | ENSP00000347507.3:p.Arg1337Trp | |
| NM_000257.3:c.4009C>T | NP_000248.2:p.Arg1337Trp | |
| XM_017021340.1:c.4009C>T | XP_016876829.1:p.Arg1337Trp | |
| NM_000257.4:c.4009C>T MANE Select | NP_000248.2:p.Arg1337Trp |