Linked Data
dbSNP Id:
rs372104261
ExAC:
16:3779669 T / C
gnomAD v2:
16-3779669-T-C
gnomAD v3:
16-3729668-T-C
gnomAD v4:
16-3729668-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729668T>C , CM000678.2:g.3729668T>C | GRCh38 |
| NC_000016.9:g.3779669T>C , CM000678.1:g.3779669T>C | GRCh37 |
| NC_000016.8:g.3719670T>C | NCBI36 |
| NG_009873.1:g.155453A>G | |
| NG_009873.2:g.156046A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5379A>G MANE Select | ENSP00000262367.5:p.Pro1793= | |
| ENST00000262367.9:c.5379A>G | ENSP00000262367.5:p.Pro1793= | |
| ENST00000382070.7:c.5265A>G | ENSP00000371502.3:p.Pro1755= | |
| NM_001079846.1:c.5265A>G | NP_001073315.1:p.Pro1755= | |
| NM_004380.2:c.5379A>G | NP_004371.2:p.Pro1793= | |
| XM_005255124.3:c.5334A>G | XP_005255181.1:p.Pro1778= | |
| XM_005255125.3:c.4962A>G | XP_005255182.1:p.Pro1654= | |
| XM_006720848.2:c.5118A>G | XP_006720911.1:p.Pro1706= | |
| XM_011522380.1:c.5325A>G | XP_011520682.1:p.Pro1775= | |
| XM_011522381.1:c.4626A>G | XP_011520683.1:p.Pro1542= | |
| XM_005255124.4:c.5334A>G | XP_005255181.1:p.Pro1778= | |
| XM_005255125.4:c.4962A>G | XP_005255182.1:p.Pro1654= | |
| XM_006720848.3:c.5118A>G | XP_006720911.1:p.Pro1706= | |
| XM_011522381.2:c.4626A>G | XP_011520683.1:p.Pro1542= | |
| XM_017022944.1:c.5373A>G | XP_016878433.1:p.Pro1791= | |
| NM_004380.3:c.5379A>G MANE Select | NP_004371.2:p.Pro1793= |