Linked Data
ClinVar Variation Id:
43110
ClinVar RCV Id:
RCV002371826
dbSNP Id:
rs397516272
gnomAD v4:
14-23430924-G-A
ERepo:
CA016918/MONDO:0005045/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23430924G>A , CM000676.2:g.23430924G>A | GRCh38 |
| NC_000014.8:g.23900133G>A , CM000676.1:g.23900133G>A | GRCh37 |
| NC_000014.7:g.22969973G>A | NCBI36 |
| NG_007884.1:g.9738C>T , LRG_384:g.9738C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.872C>T MANE Select | ENSP00000347507.3:p.Ser291Phe | |
| ENST00000355349.3:c.872C>T | ENSP00000347507.3:p.Ser291Phe | |
| NM_000257.3:c.872C>T | NP_000248.2:p.Ser291Phe | |
| XR_245686.3:n.978C>T | ||
| XM_017021340.1:c.872C>T | XP_016876829.1:p.Ser291Phe | |
| NM_000257.4:c.872C>T MANE Select | NP_000248.2:p.Ser291Phe |