Linked Data
dbSNP Id:
rs2151305113
gnomAD v4:
16-3728789-C-T
MyVariant Identifiers:
chr16:g.3778790C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728789C>T , CM000678.2:g.3728789C>T | GRCh38 |
| NC_000016.9:g.3778790C>T , CM000678.1:g.3778790C>T | GRCh37 |
| NC_000016.8:g.3718791C>T | NCBI36 |
| NG_009873.1:g.156332G>A | |
| NG_009873.2:g.156925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6258G>A MANE Select | ENSP00000262367.5:p.Val2086= | |
| ENST00000262367.9:c.6258G>A | ENSP00000262367.5:p.Val2086= | |
| ENST00000382070.7:c.6144G>A | ENSP00000371502.3:p.Val2048= | |
| NM_001079846.1:c.6144G>A | NP_001073315.1:p.Val2048= | |
| NM_004380.2:c.6258G>A | NP_004371.2:p.Val2086= | |
| XM_005255124.3:c.6213G>A | XP_005255181.1:p.Val2071= | |
| XM_005255125.3:c.5841G>A | XP_005255182.1:p.Val1947= | |
| XM_006720848.2:c.5997G>A | XP_006720911.1:p.Val1999= | |
| XM_011522380.1:c.6204G>A | XP_011520682.1:p.Val2068= | |
| XM_011522381.1:c.5505G>A | XP_011520683.1:p.Val1835= | |
| XM_005255124.4:c.6213G>A | XP_005255181.1:p.Val2071= | |
| XM_005255125.4:c.5841G>A | XP_005255182.1:p.Val1947= | |
| XM_006720848.3:c.5997G>A | XP_006720911.1:p.Val1999= | |
| XM_011522381.2:c.5505G>A | XP_011520683.1:p.Val1835= | |
| XM_017022944.1:c.6252G>A | XP_016878433.1:p.Val2084= | |
| NM_004380.3:c.6258G>A MANE Select | NP_004371.2:p.Val2086= |