Linked Data
ClinVar Variation Id:
589298
ClinVar RCV Id:
RCV002318717
dbSNP Id:
rs533040964
ExAC:
16:3779702 C / T
gnomAD v2:
16-3779702-C-T
gnomAD v3:
16-3729701-C-T
gnomAD v4:
16-3729701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729701C>T , CM000678.2:g.3729701C>T | GRCh38 |
| NC_000016.9:g.3779702C>T , CM000678.1:g.3779702C>T | GRCh37 |
| NC_000016.8:g.3719703C>T | NCBI36 |
| NG_009873.1:g.155420G>A | |
| NG_009873.2:g.156013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5346G>A MANE Select | ENSP00000262367.5:p.Ala1782= | |
| ENST00000262367.9:c.5346G>A | ENSP00000262367.5:p.Ala1782= | |
| ENST00000382070.7:c.5232G>A | ENSP00000371502.3:p.Ala1744= | |
| NM_001079846.1:c.5232G>A | NP_001073315.1:p.Ala1744= | |
| NM_004380.2:c.5346G>A | NP_004371.2:p.Ala1782= | |
| XM_005255124.3:c.5301G>A | XP_005255181.1:p.Ala1767= | |
| XM_005255125.3:c.4929G>A | XP_005255182.1:p.Ala1643= | |
| XM_006720848.2:c.5085G>A | XP_006720911.1:p.Ala1695= | |
| XM_011522380.1:c.5292G>A | XP_011520682.1:p.Ala1764= | |
| XM_011522381.1:c.4593G>A | XP_011520683.1:p.Ala1531= | |
| XM_005255124.4:c.5301G>A | XP_005255181.1:p.Ala1767= | |
| XM_005255125.4:c.4929G>A | XP_005255182.1:p.Ala1643= | |
| XM_006720848.3:c.5085G>A | XP_006720911.1:p.Ala1695= | |
| XM_011522381.2:c.4593G>A | XP_011520683.1:p.Ala1531= | |
| XM_017022944.1:c.5340G>A | XP_016878433.1:p.Ala1780= | |
| NM_004380.3:c.5346G>A MANE Select | NP_004371.2:p.Ala1782= |