Linked Data
ClinVar Variation Id:
312729
ClinVar RCV Id:
RCV000356988
dbSNP Id:
rs367991537
gnomAD v2:
14-20940614-C-A
gnomAD v4:
14-20472455-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20472455C>A , CM000676.2:g.20472455C>A | GRCh38 |
| NC_000014.8:g.20940614C>A , CM000676.1:g.20940614C>A | GRCh37 |
| NC_000014.7:g.20010454C>A | NCBI36 |
| NG_009631.1:g.8073C>A , LRG_91:g.8073C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.276C>A | ENSP00000452421.2:p.Ile92= | |
| ENST00000556293.6:n.278C>A | ||
| ENST00000556754.2:n.1221C>A | ||
| ENST00000557229.6:n.278C>A | ||
| ENST00000697613.1:c.159C>A | ENSP00000513359.1:p.Ile53= | |
| ENST00000697614.1:c.-79C>A | ENSP00000513360.1:n.-79C>A | |
| ENST00000697615.1:n.677C>A | ||
| ENST00000361505.10:c.159C>A MANE Select | ENSP00000354532.6:p.Ile53= | |
| ENST00000361505.9:c.159C>A | ENSP00000354532.5:p.Ile53= | |
| ENST00000553418.5:c.159C>A | ENSP00000450663.1:p.Ile53= | |
| ENST00000553591.1:c.276C>A | ENSP00000452421.1:p.Ile92= | |
| ENST00000554056.5:n.270C>A | ||
| ENST00000554065.1:c.-79C>A | ENSP00000451108.1:n.-79C>A | |
| ENST00000556293.5:n.278C>A | ||
| ENST00000557229.5:n.278C>A | ||
| NM_000270.3:c.159C>A , LRG_91t1:c.159C>A | NP_000261.2:p.Ile53= | |
| NM_000270.4:c.159C>A MANE Select | NP_000261.2:p.Ile53= |