Linked Data
ClinVar Variation Id:
3162846
ClinVar RCV Id:
RCV004456245
dbSNP Id:
rs771398122
ExAC:
16:56904139 C / A
gnomAD v2:
16-56904139-C-A
gnomAD v3:
16-56870227-C-A
gnomAD v4:
16-56870227-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870227C>A , CM000678.2:g.56870227C>A | GRCh38 |
| NC_000016.9:g.56904139C>A , CM000678.1:g.56904139C>A | GRCh37 |
| NC_000016.8:g.55461640C>A | NCBI36 |
| NG_009386.1:g.10021C>A | |
| NG_009386.2:g.10021C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.733C>A MANE Select | ENSP00000456149.2:p.Leu245Met | |
| ENST00000262502.5:c.730C>A | ENSP00000262502.5:p.Leu244Met | |
| ENST00000438926.6:c.733C>A | ENSP00000402152.2:p.Leu245Met | |
| ENST00000563236.5:c.733C>A | ENSP00000456149.1:p.Leu245Met | |
| ENST00000566786.5:c.730C>A | ENSP00000457552.1:p.Leu244Met | |
| NM_000339.2:c.733C>A | NP_000330.2:p.Leu245Met | |
| NM_001126107.1:c.730C>A | NP_001119579.1:p.Leu244Met | |
| NM_001126108.1:c.733C>A | NP_001119580.1:p.Leu245Met | |
| XM_005256119.1:c.730C>A | XP_005256176.1:p.Leu244Met | |
| XM_005256119.2:c.730C>A | XP_005256176.1:p.Leu244Met | |
| NM_000339.3:c.733C>A | NP_000330.3:p.Leu245Met | |
| NM_001126107.2:c.730C>A | NP_001119579.2:p.Leu244Met | |
| NM_001126108.2:c.733C>A MANE Select | NP_001119580.2:p.Leu245Met |