Linked Data
dbSNP Id:
rs2051859570
gnomAD v3:
16-3729746-T-C
gnomAD v4:
16-3729746-T-C
MyVariant Identifiers:
chr16:g.3779747T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729746T>C , CM000678.2:g.3729746T>C | GRCh38 |
| NC_000016.9:g.3779747T>C , CM000678.1:g.3779747T>C | GRCh37 |
| NC_000016.8:g.3719748T>C | NCBI36 |
| NG_009873.1:g.155375A>G | |
| NG_009873.2:g.155968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5301A>G MANE Select | ENSP00000262367.5:p.Ser1767= | |
| ENST00000262367.9:c.5301A>G | ENSP00000262367.5:p.Ser1767= | |
| ENST00000382070.7:c.5187A>G | ENSP00000371502.3:p.Ser1729= | |
| NM_001079846.1:c.5187A>G | NP_001073315.1:p.Ser1729= | |
| NM_004380.2:c.5301A>G | NP_004371.2:p.Ser1767= | |
| XM_005255124.3:c.5256A>G | XP_005255181.1:p.Ser1752= | |
| XM_005255125.3:c.4884A>G | XP_005255182.1:p.Ser1628= | |
| XM_006720848.2:c.5040A>G | XP_006720911.1:p.Ser1680= | |
| XM_011522380.1:c.5247A>G | XP_011520682.1:p.Ser1749= | |
| XM_011522381.1:c.4548A>G | XP_011520683.1:p.Ser1516= | |
| XM_005255124.4:c.5256A>G | XP_005255181.1:p.Ser1752= | |
| XM_005255125.4:c.4884A>G | XP_005255182.1:p.Ser1628= | |
| XM_006720848.3:c.5040A>G | XP_006720911.1:p.Ser1680= | |
| XM_011522381.2:c.4548A>G | XP_011520683.1:p.Ser1516= | |
| XM_017022944.1:c.5295A>G | XP_016878433.1:p.Ser1765= | |
| NM_004380.3:c.5301A>G MANE Select | NP_004371.2:p.Ser1767= |