Linked Data
ClinVar Variation Id:
1980627
dbSNP Id:
rs764396354
ExAC:
16:3777767 G / A
gnomAD v2:
16-3777767-G-A
gnomAD v3:
16-3727766-G-A
gnomAD v4:
16-3727766-G-A
COSMIC:
COSM3509547
MyVariant Identifiers:
chr16:g.3777767G>A (hg19)
chr16:g.3777767_3777770delinsAACC (hg19)
chr16:g.3727766G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727766G>A , CM000678.2:g.3727766G>A | GRCh38 |
| NC_000016.9:g.3777767G>A , CM000678.1:g.3777767G>A | GRCh37 |
| NC_000016.8:g.3717768G>A | NCBI36 |
| NG_009873.1:g.157355C>T | |
| NG_009873.2:g.157948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7281C>T MANE Select | ENSP00000262367.5:p.Val2427= | |
| ENST00000262367.9:c.7281C>T | ENSP00000262367.5:p.Val2427= | |
| ENST00000382070.7:c.7167C>T | ENSP00000371502.3:p.Val2389= | |
| NM_001079846.1:c.7167C>T | NP_001073315.1:p.Val2389= | |
| NM_004380.2:c.7281C>T | NP_004371.2:p.Val2427= | |
| XM_005255124.3:c.7236C>T | XP_005255181.1:p.Val2412= | |
| XM_005255125.3:c.6864C>T | XP_005255182.1:p.Val2288= | |
| XM_006720848.2:c.7020C>T | XP_006720911.1:p.Val2340= | |
| XM_011522380.1:c.7227C>T | XP_011520682.1:p.Val2409= | |
| XM_011522381.1:c.6528C>T | XP_011520683.1:p.Val2176= | |
| XM_005255124.4:c.7236C>T | XP_005255181.1:p.Val2412= | |
| XM_005255125.4:c.6864C>T | XP_005255182.1:p.Val2288= | |
| XM_006720848.3:c.7020C>T | XP_006720911.1:p.Val2340= | |
| XM_011522381.2:c.6528C>T | XP_011520683.1:p.Val2176= | |
| XM_017022944.1:c.7275C>T | XP_016878433.1:p.Val2425= | |
| NM_004380.3:c.7281C>T MANE Select | NP_004371.2:p.Val2427= |