Linked Data
ClinVar Variation Id:
1335203
dbSNP Id:
rs375864984
ExAC:
16:3777851 G / A
gnomAD v2:
16-3777851-G-A
gnomAD v3:
16-3727850-G-A
gnomAD v4:
16-3727850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727850G>A , CM000678.2:g.3727850G>A | GRCh38 |
| NC_000016.9:g.3777851G>A , CM000678.1:g.3777851G>A | GRCh37 |
| NC_000016.8:g.3717852G>A | NCBI36 |
| NG_009873.1:g.157271C>T | |
| NG_009873.2:g.157864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7197C>T MANE Select | ENSP00000262367.5:p.His2399= | |
| ENST00000262367.9:c.7197C>T | ENSP00000262367.5:p.His2399= | |
| ENST00000382070.7:c.7083C>T | ENSP00000371502.3:p.His2361= | |
| NM_001079846.1:c.7083C>T | NP_001073315.1:p.His2361= | |
| NM_004380.2:c.7197C>T | NP_004371.2:p.His2399= | |
| XM_005255124.3:c.7152C>T | XP_005255181.1:p.His2384= | |
| XM_005255125.3:c.6780C>T | XP_005255182.1:p.His2260= | |
| XM_006720848.2:c.6936C>T | XP_006720911.1:p.His2312= | |
| XM_011522380.1:c.7143C>T | XP_011520682.1:p.His2381= | |
| XM_011522381.1:c.6444C>T | XP_011520683.1:p.His2148= | |
| XM_005255124.4:c.7152C>T | XP_005255181.1:p.His2384= | |
| XM_005255125.4:c.6780C>T | XP_005255182.1:p.His2260= | |
| XM_006720848.3:c.6936C>T | XP_006720911.1:p.His2312= | |
| XM_011522381.2:c.6444C>T | XP_011520683.1:p.His2148= | |
| XM_017022944.1:c.7191C>T | XP_016878433.1:p.His2397= | |
| NM_004380.3:c.7197C>T MANE Select | NP_004371.2:p.His2399= |