Linked Data
ClinVar Variation Id:
925073
ClinVar RCV Id:
RCV001186813
dbSNP Id:
rs1892363435
gnomAD v4:
14-23419267-C-T
MyVariant Identifiers:
chr14:g.23888476C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419267C>T , CM000676.2:g.23419267C>T | GRCh38 |
| NC_000014.8:g.23888476C>T , CM000676.1:g.23888476C>T | GRCh37 |
| NC_000014.7:g.22958316C>T | NCBI36 |
| NG_007884.1:g.21395G>A , LRG_384:g.21395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3882G>A MANE Select | ENSP00000347507.3:p.Lys1294= | |
| ENST00000355349.3:c.3882G>A | ENSP00000347507.3:p.Lys1294= | |
| NM_000257.3:c.3882G>A | NP_000248.2:p.Lys1294= | |
| XM_017021340.1:c.3882G>A | XP_016876829.1:p.Lys1294= | |
| NM_000257.4:c.3882G>A MANE Select | NP_000248.2:p.Lys1294= |