Linked Data
ClinVar Variation Id:
166960
dbSNP Id:
rs144609433
ExAC:
16:3777746 C / T
gnomAD v2:
16-3777746-C-T
gnomAD v3:
16-3727745-C-T
gnomAD v4:
16-3727745-C-T
COSMIC:
COSM1301954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727745C>T , CM000678.2:g.3727745C>T | GRCh38 |
| NC_000016.9:g.3777746C>T , CM000678.1:g.3777746C>T | GRCh37 |
| NC_000016.8:g.3717747C>T | NCBI36 |
| NG_009873.1:g.157376G>A | |
| NG_009873.2:g.157969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.7302G>A MANE Select | ENSP00000262367.5:p.Thr2434= | |
| ENST00000262367.9:c.7302G>A | ENSP00000262367.5:p.Thr2434= | |
| ENST00000382070.7:c.7188G>A | ENSP00000371502.3:p.Thr2396= | |
| NM_001079846.1:c.7188G>A | NP_001073315.1:p.Thr2396= | |
| NM_004380.2:c.7302G>A | NP_004371.2:p.Thr2434= | |
| XM_005255124.3:c.7257G>A | XP_005255181.1:p.Thr2419= | |
| XM_005255125.3:c.6885G>A | XP_005255182.1:p.Thr2295= | |
| XM_006720848.2:c.7041G>A | XP_006720911.1:p.Thr2347= | |
| XM_011522380.1:c.7248G>A | XP_011520682.1:p.Thr2416= | |
| XM_011522381.1:c.6549G>A | XP_011520683.1:p.Thr2183= | |
| XM_005255124.4:c.7257G>A | XP_005255181.1:p.Thr2419= | |
| XM_005255125.4:c.6885G>A | XP_005255182.1:p.Thr2295= | |
| XM_006720848.3:c.7041G>A | XP_006720911.1:p.Thr2347= | |
| XM_011522381.2:c.6549G>A | XP_011520683.1:p.Thr2183= | |
| XM_017022944.1:c.7296G>A | XP_016878433.1:p.Thr2432= | |
| NM_004380.3:c.7302G>A MANE Select | NP_004371.2:p.Thr2434= |