Linked Data
ClinVar Variation Id:
307481
dbSNP Id:
rs144544907
ExAC:
12:122281675 G / A
gnomAD v2:
12-122281675-G-A
gnomAD v3:
12-121843769-G-A
gnomAD v4:
12-121843769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121843769G>A , CM000674.2:g.121843769G>A | GRCh38 |
| NC_000012.11:g.122281675G>A , CM000674.1:g.122281675G>A | GRCh37 |
| NC_000012.10:g.120766058G>A | NCBI36 |
| NG_016461.1:g.49843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.895C>T MANE Select | ENSP00000289004.4:p.Leu299= | |
| ENST00000543163.5:c.778C>T | ENSP00000441677.1:p.Leu260= | |
| NM_001171993.1:c.778C>T | NP_001165464.1:p.Leu260= | |
| NM_002150.2:c.895C>T | NP_002141.1:p.Leu299= | |
| NM_002150.3:c.895C>T MANE Select | NP_002141.2:p.Leu299= | |
| NM_001171993.2:c.778C>T | NP_001165464.1:p.Leu260= |