Linked Data
ClinVar Variation Id:
1159141
ClinVar RCV Id:
RCV001502765
dbSNP Id:
rs782500934
gnomAD v3:
12-121626990-G-A
gnomAD v4:
12-121626990-G-A
MyVariant Identifiers:
chr12:g.121626990G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121626990G>A , CM000674.2:g.121626990G>A | GRCh38 |
| NC_000012.10:g.120549279G>A | NCBI36 |
| NG_007500.1:g.5416G>A , LRG_93:g.5416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+57G>A | ||
| ENST00000617316.2:c.243G>A | ENSP00000482568.2:p.Leu81= | |
| ENST00000646827.1:n.441G>A | ||
| ENST00000611718.1:c.54G>A | ENSP00000477953.1:p.Leu18= | |
| ENST00000616379.1:c.243G>A | ENSP00000480616.1:p.Leu81= | |
| ENST00000617316.1:c.54G>A | ENSP00000482568.1:p.Leu18= | |
| NM_032790.3:c.243G>A , LRG_93t1:c.243G>A | NP_116179.2:p.Leu81= |