Linked Data
dbSNP Id:
rs752626859
gnomAD v4:
16-3727883-T-A
MyVariant Identifiers:
chr16:g.3777884T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727883T>A , CM000678.2:g.3727883T>A | GRCh38 |
| NC_000016.9:g.3777884T>A , CM000678.1:g.3777884T>A | GRCh37 |
| NC_000016.8:g.3717885T>A | NCBI36 |
| NG_009873.1:g.157238A>T | |
| NG_009873.2:g.157831A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7164A>T MANE Select | ENSP00000262367.5:p.Ala2388= | |
| ENST00000262367.9:c.7164A>T | ENSP00000262367.5:p.Ala2388= | |
| ENST00000382070.7:c.7050A>T | ENSP00000371502.3:p.Ala2350= | |
| NM_001079846.1:c.7050A>T | NP_001073315.1:p.Ala2350= | |
| NM_004380.2:c.7164A>T | NP_004371.2:p.Ala2388= | |
| XM_005255124.3:c.7119A>T | XP_005255181.1:p.Ala2373= | |
| XM_005255125.3:c.6747A>T | XP_005255182.1:p.Ala2249= | |
| XM_006720848.2:c.6903A>T | XP_006720911.1:p.Ala2301= | |
| XM_011522380.1:c.7110A>T | XP_011520682.1:p.Ala2370= | |
| XM_011522381.1:c.6411A>T | XP_011520683.1:p.Ala2137= | |
| XM_005255124.4:c.7119A>T | XP_005255181.1:p.Ala2373= | |
| XM_005255125.4:c.6747A>T | XP_005255182.1:p.Ala2249= | |
| XM_006720848.3:c.6903A>T | XP_006720911.1:p.Ala2301= | |
| XM_011522381.2:c.6411A>T | XP_011520683.1:p.Ala2137= | |
| XM_017022944.1:c.7158A>T | XP_016878433.1:p.Ala2386= | |
| NM_004380.3:c.7164A>T MANE Select | NP_004371.2:p.Ala2388= |