Linked Data
ClinVar Variation Id:
1001687
dbSNP Id:
rs750627218
ExAC:
14:23889272 C / T
gnomAD v2:
14-23889272-C-T
gnomAD v4:
14-23420063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420063C>T , CM000676.2:g.23420063C>T | GRCh38 |
| NC_000014.8:g.23889272C>T , CM000676.1:g.23889272C>T | GRCh37 |
| NC_000014.7:g.22959112C>T | NCBI36 |
| NG_007884.1:g.20599G>A , LRG_384:g.20599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3508G>A MANE Select | ENSP00000347507.3:p.Glu1170Lys | |
| ENST00000355349.3:c.3508G>A | ENSP00000347507.3:p.Glu1170Lys | |
| NM_000257.3:c.3508G>A | NP_000248.2:p.Glu1170Lys | |
| XM_017021340.1:c.3508G>A | XP_016876829.1:p.Glu1170Lys | |
| NM_000257.4:c.3508G>A MANE Select | NP_000248.2:p.Glu1170Lys |