Linked Data
ClinVar Variation Id:
3074402
ClinVar RCV Id:
RCV004013936
dbSNP Id:
rs751695298
ExAC:
14:23889281 G / A
gnomAD v4:
14-23420072-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420072G>A , CM000676.2:g.23420072G>A | GRCh38 |
| NC_000014.8:g.23889281G>A , CM000676.1:g.23889281G>A | GRCh37 |
| NC_000014.7:g.22959121G>A | NCBI36 |
| NG_007884.1:g.20590C>T , LRG_384:g.20590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3499C>T MANE Select | ENSP00000347507.3:p.Arg1167Cys | |
| ENST00000355349.3:c.3499C>T | ENSP00000347507.3:p.Arg1167Cys | |
| NM_000257.3:c.3499C>T | NP_000248.2:p.Arg1167Cys | |
| XM_017021340.1:c.3499C>T | XP_016876829.1:p.Arg1167Cys | |
| NM_000257.4:c.3499C>T MANE Select | NP_000248.2:p.Arg1167Cys |