Linked Data
ClinVar Variation Id:
158401
dbSNP Id:
rs587783514
ExAC:
16:3777755 C / T
gnomAD v2:
16-3777755-C-T
gnomAD v3:
16-3727754-C-T
gnomAD v4:
16-3727754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727754C>T , CM000678.2:g.3727754C>T | GRCh38 |
| NC_000016.9:g.3777755C>T , CM000678.1:g.3777755C>T | GRCh37 |
| NC_000016.8:g.3717756C>T | NCBI36 |
| NG_009873.1:g.157367G>A | |
| NG_009873.2:g.157960G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.7293G>A MANE Select | ENSP00000262367.5:p.Thr2431= | |
| ENST00000262367.9:c.7293G>A | ENSP00000262367.5:p.Thr2431= | |
| ENST00000382070.7:c.7179G>A | ENSP00000371502.3:p.Thr2393= | |
| NM_001079846.1:c.7179G>A | NP_001073315.1:p.Thr2393= | |
| NM_004380.2:c.7293G>A | NP_004371.2:p.Thr2431= | |
| XM_005255124.3:c.7248G>A | XP_005255181.1:p.Thr2416= | |
| XM_005255125.3:c.6876G>A | XP_005255182.1:p.Thr2292= | |
| XM_006720848.2:c.7032G>A | XP_006720911.1:p.Thr2344= | |
| XM_011522380.1:c.7239G>A | XP_011520682.1:p.Thr2413= | |
| XM_011522381.1:c.6540G>A | XP_011520683.1:p.Thr2180= | |
| XM_005255124.4:c.7248G>A | XP_005255181.1:p.Thr2416= | |
| XM_005255125.4:c.6876G>A | XP_005255182.1:p.Thr2292= | |
| XM_006720848.3:c.7032G>A | XP_006720911.1:p.Thr2344= | |
| XM_011522381.2:c.6540G>A | XP_011520683.1:p.Thr2180= | |
| XM_017022944.1:c.7287G>A | XP_016878433.1:p.Thr2429= | |
| NM_004380.3:c.7293G>A MANE Select | NP_004371.2:p.Thr2431= |