Linked Data
ClinVar Variation Id:
2066062
ClinVar RCV Id:
RCV002948893
dbSNP Id:
rs758252325
ExAC:
6:3155069 C / T
gnomAD v2:
6-3155069-C-T
gnomAD v3:
6-3154835-C-T
gnomAD v4:
6-3154835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154835C>T , CM000668.2:g.3154835C>T | GRCh38 |
| NC_000006.11:g.3155069C>T , CM000668.1:g.3155069C>T | GRCh37 |
| NC_000006.10:g.3100068C>T | NCBI36 |
| NG_042223.1:g.7715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.366G>A MANE Select | ENSP00000369703.2:p.Lys122= | |
| ENST00000679400.1:n.422G>A | ||
| ENST00000679907.1:n.754G>A | ||
| ENST00000680036.1:n.1148G>A | ||
| ENST00000680967.1:n.1456G>A | ||
| ENST00000333628.3:c.366G>A | ENSP00000369703.2:p.Lys122= | |
| ENST00000489942.1:n.561G>A | ||
| NM_001069.2:c.366G>A | NP_001060.1:p.Lys122= | |
| NM_001310315.1:c.111G>A | NP_001297244.1:p.Lys37= | |
| NM_001069.3:c.366G>A MANE Select | NP_001060.1:p.Lys122= | |
| NM_001310315.2:c.111G>A | NP_001297244.1:p.Lys37= |