Linked Data
ClinVar Variation Id:
1004990
ClinVar RCV Id:
RCV001301781
dbSNP Id:
rs1412529182
gnomAD v4:
14-20475183-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20475183G>A , CM000676.2:g.20475183G>A | GRCh38 |
| NC_000014.8:g.20943342G>A , CM000676.1:g.20943342G>A | GRCh37 |
| NC_000014.7:g.20013182G>A | NCBI36 |
| NG_009631.1:g.10801G>A , LRG_91:g.10801G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553591.2:c.700G>A | ENSP00000452421.2:p.Val234Met | |
| ENST00000556293.6:n.3006G>A | ||
| ENST00000556754.2:n.3949G>A | ||
| ENST00000557229.6:n.1012G>A | ||
| ENST00000697613.1:c.583G>A | ENSP00000513359.1:p.Val195Met | |
| ENST00000697614.1:c.346G>A | ENSP00000513360.1:p.Val116Met | |
| ENST00000697615.1:n.1411G>A | ||
| ENST00000361505.10:c.583G>A MANE Select | ENSP00000354532.6:p.Val195Met | |
| ENST00000361505.9:c.583G>A | ENSP00000354532.5:p.Val195Met | |
| ENST00000554056.5:n.891G>A | ||
| ENST00000556754.1:n.1800G>A | ||
| NM_000270.3:c.583G>A , LRG_91t1:c.583G>A | NP_000261.2:p.Val195Met | |
| NM_000270.4:c.583G>A MANE Select | NP_000261.2:p.Val195Met |