Linked Data
ClinVar Variation Id:
2191444
ClinVar RCV Id:
RCV002632816
dbSNP Id:
rs1389081252
gnomAD v2:
6-3155020-G-A
gnomAD v3:
6-3154786-G-A
gnomAD v4:
6-3154786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154786G>A , CM000668.2:g.3154786G>A | GRCh38 |
| NC_000006.11:g.3155020G>A , CM000668.1:g.3155020G>A | GRCh37 |
| NC_000006.10:g.3100019G>A | NCBI36 |
| NG_042223.1:g.7764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.415C>T MANE Select | ENSP00000369703.2:p.Leu139= | |
| ENST00000679400.1:n.471C>T | ||
| ENST00000679907.1:n.803C>T | ||
| ENST00000680036.1:n.1197C>T | ||
| ENST00000680967.1:n.1505C>T | ||
| ENST00000333628.3:c.415C>T | ENSP00000369703.2:p.Leu139= | |
| ENST00000489942.1:n.610C>T | ||
| NM_001069.2:c.415C>T | NP_001060.1:p.Leu139= | |
| NM_001310315.1:c.160C>T | NP_001297244.1:p.Leu54= | |
| NM_001069.3:c.415C>T MANE Select | NP_001060.1:p.Leu139= | |
| NM_001310315.2:c.160C>T | NP_001297244.1:p.Leu54= |