Linked Data
ClinVar Variation Id:
473058
ClinVar RCV Id:
RCV000558431
dbSNP Id:
rs186112147
ExAC:
16:49670843 C / T
gnomAD v2:
16-49670843-C-T
gnomAD v3:
16-49636932-C-T
gnomAD v4:
16-49636932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49636932C>T , CM000678.2:g.49636932C>T | GRCh38 |
| NC_000016.9:g.49670843C>T , CM000678.1:g.49670843C>T | GRCh37 |
| NC_000016.8:g.48228344C>T | NCBI36 |
| NG_032972.1:g.225988G>A | |
| NG_032972.2:g.225988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563137.7:c.2244G>A MANE Select | ENSP00000455588.3:p.Ala748= | |
| ENST00000262383.6:c.2220G>A | ENSP00000262383.2:p.Ala740= | |
| ENST00000535559.5:c.1869G>A | ENSP00000442321.1:p.Ala623= | |
| ENST00000561648.5:c.2220G>A | ENSP00000455426.1:p.Ala740= | |
| ENST00000562520.1:c.2040G>A | ENSP00000457664.1:p.Ala680= | |
| ENST00000562871.5:c.2040G>A | ENSP00000457928.1:p.Ala680= | |
| ENST00000563137.6:c.2040G>A | ENSP00000455588.2:p.Ala680= | |
| ENST00000567169.5:c.1869G>A | ENSP00000455061.1:p.Ala623= | |
| NM_001271620.1:c.2040G>A | NP_001258549.1:p.Ala680= | |
| NM_015069.3:c.2220G>A | NP_055884.2:p.Ala740= | |
| XM_005255856.3:c.2040G>A | XP_005255913.1:p.Ala680= | |
| XM_005255857.3:c.1869G>A | XP_005255914.1:p.Ala623= | |
| XM_006721171.2:c.2265G>A | XP_006721234.1:p.Ala755= | |
| XM_011522962.1:c.2313G>A | XP_011521264.1:p.Ala771= | |
| NM_001271620.2:c.2040G>A | NP_001258549.1:p.Ala680= | |
| NM_001330533.1:c.1869G>A | NP_001317462.1:p.Ala623= | |
| NM_015069.4:c.2220G>A | NP_055884.2:p.Ala740= | |
| XM_005255856.4:c.2040G>A | XP_005255913.1:p.Ala680= | |
| XM_006721171.4:c.2265G>A | XP_006721234.1:p.Ala755= | |
| XM_017023076.2:c.2244G>A | XP_016878565.1:p.Ala748= | |
| XM_017023077.1:c.2040G>A | XP_016878566.1:p.Ala680= | |
| XM_017023078.1:c.2040G>A | XP_016878567.1:p.Ala680= | |
| NM_001330533.2:c.1869G>A | NP_001317462.1:p.Ala623= | |
| NM_001379286.1:c.2244G>A MANE Select | NP_001366215.1:p.Ala748= | |
| NM_015069.5:c.2220G>A | NP_055884.2:p.Ala740= |