Linked Data
ClinVar Variation Id:
923226
ClinVar RCV Id:
RCV001183771
dbSNP Id:
rs1892126790
gnomAD v4:
14-23415031-C-T
MyVariant Identifiers:
chr14:g.23884240C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415031C>T , CM000676.2:g.23415031C>T | GRCh38 |
| NC_000014.8:g.23884240C>T , CM000676.1:g.23884240C>T | GRCh37 |
| NC_000014.7:g.22954080C>T | NCBI36 |
| NG_007884.1:g.25631G>A , LRG_384:g.25631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5523G>A MANE Select | ENSP00000347507.3:p.Arg1841= | |
| ENST00000355349.3:c.5523G>A | ENSP00000347507.3:p.Arg1841= | |
| NM_000257.3:c.5523G>A | NP_000248.2:p.Arg1841= | |
| XM_017021340.1:c.5523G>A | XP_016876829.1:p.Arg1841= | |
| NM_000257.4:c.5523G>A MANE Select | NP_000248.2:p.Arg1841= |