Linked Data
dbSNP Id:
rs2151329497
gnomAD v4:
16-3736710-C-T
MyVariant Identifiers:
chr16:g.3786711C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736710C>T , CM000678.2:g.3736710C>T | GRCh38 |
| NC_000016.9:g.3786711C>T , CM000678.1:g.3786711C>T | GRCh37 |
| NC_000016.8:g.3726712C>T | NCBI36 |
| NG_009873.1:g.148411G>A | |
| NG_009873.2:g.149004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4500G>A MANE Select | ENSP00000262367.5:p.Gln1500= | |
| ENST00000262367.9:c.4500G>A | ENSP00000262367.5:p.Gln1500= | |
| ENST00000382070.7:c.4386G>A | ENSP00000371502.3:p.Gln1462= | |
| ENST00000570939.2:c.3135G>A | ENSP00000461002.2:p.Gln1045= | |
| ENST00000571763.5:n.290G>A | ||
| ENST00000574740.1:n.321G>A | ||
| ENST00000576720.1:n.3323G>A | ||
| NM_001079846.1:c.4386G>A | NP_001073315.1:p.Gln1462= | |
| NM_004380.2:c.4500G>A | NP_004371.2:p.Gln1500= | |
| XM_005255124.3:c.4455G>A | XP_005255181.1:p.Gln1485= | |
| XM_005255125.3:c.4083G>A | XP_005255182.1:p.Gln1361= | |
| XM_006720848.2:c.4239G>A | XP_006720911.1:p.Gln1413= | |
| XM_011522380.1:c.4446G>A | XP_011520682.1:p.Gln1482= | |
| XM_011522381.1:c.3747G>A | XP_011520683.1:p.Gln1249= | |
| XM_005255124.4:c.4455G>A | XP_005255181.1:p.Gln1485= | |
| XM_005255125.4:c.4083G>A | XP_005255182.1:p.Gln1361= | |
| XM_006720848.3:c.4239G>A | XP_006720911.1:p.Gln1413= | |
| XM_011522381.2:c.3747G>A | XP_011520683.1:p.Gln1249= | |
| XM_017022944.1:c.4494G>A | XP_016878433.1:p.Gln1498= | |
| NM_004380.3:c.4500G>A MANE Select | NP_004371.2:p.Gln1500= |