Linked Data
ClinVar Variation Id:
498091
ClinVar RCV Id:
RCV000595382
dbSNP Id:
rs1554884156
gnomAD v3:
10-110602131-G-A
gnomAD v4:
10-110602131-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602131G>A , CM000672.2:g.110602131G>A | GRCh38 |
| NC_000010.10:g.112361889G>A , CM000672.1:g.112361889G>A | GRCh37 |
| NC_000010.9:g.112351879G>A | NCBI36 |
| NG_012217.1:g.39441G>A , LRG_774:g.39441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5291G>A | ||
| ENST00000685743.1:n.2766G>A | ||
| ENST00000686057.1:n.1409G>A | ||
| ENST00000689321.1:n.2021G>A | ||
| ENST00000689986.1:n.847G>A | ||
| ENST00000361804.5:c.3058G>A MANE Select | ENSP00000354720.5:p.Val1020Ile | |
| ENST00000361804.4:c.3058G>A | ENSP00000354720.4:p.Val1020Ile | |
| NM_005445.3:c.3058G>A , LRG_774t1:c.3058G>A | NP_005436.1:p.Val1020Ile | |
| NM_005445.4:c.3058G>A MANE Select | NP_005436.1:p.Val1020Ile |