Linked Data
dbSNP Id:
rs754227881
ExAC:
6:10556830 C / T
gnomAD v2:
6-10556830-C-T
gnomAD v3:
6-10556597-C-T
gnomAD v4:
6-10556597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10556597C>T , CM000668.2:g.10556597C>T | GRCh38 |
| NC_000006.11:g.10556830C>T , CM000668.1:g.10556830C>T | GRCh37 |
| NC_000006.10:g.10664816C>T | NCBI36 |
| NG_007469.3:g.69375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316170.9:c.174C>T MANE Plus Clinical | ENSP00000314844.3:p.Phe58= | |
| ENST00000397423.7:n.484+27756C>T | ||
| ENST00000495262.7:c.925+26761C>T MANE Select | ENSP00000419411.2:n.925+26761C>T | |
| ENST00000640968.1:c.174C>T | ENSP00000492466.1:p.Phe58= | |
| ENST00000316170.7:c.174C>T | ENSP00000314844.3:p.Phe58= | |
| ENST00000379597.7:c.925+26761C>T | ENSP00000368917.3:n.925+26761C>T | |
| ENST00000397423.6:n.484+27756C>T | ||
| ENST00000410107.5:c.67+47439C>T | ENSP00000386321.1:n.67+47439C>T | |
| ENST00000461400.1:n.25+26761C>T | ||
| ENST00000474518.1:n.508+27756C>T | ||
| ENST00000475577.5:n.254+28937C>T | ||
| ENST00000485764.1:n.40+26761C>T | ||
| ENST00000489225.5:n.283+63666C>T | ||
| ENST00000489819.5:n.175+35003C>T | ||
| ENST00000495262.5:c.925+26761C>T | ENSP00000419411.1:n.925+26761C>T | |
| NM_001491.2:c.174C>T | NP_001482.1:p.Phe58= | |
| NM_145649.4:c.925+26761C>T | NP_663624.1:n.925+26761C>T | |
| XM_005248997.2:c.174C>T | XP_005249054.1:p.Phe58= | |
| XM_005248999.2:c.694+26761C>T | XP_005249056.1:n.694+26761C>T | |
| XM_006715052.2:c.925+26761C>T | XP_006715115.1:n.925+26761C>T | |
| XM_011514465.1:c.926-16533C>T | XP_011512767.1:n.926-16533C>T | |
| XM_011514467.1:c.694+26761C>T | XP_011512769.1:n.694+26761C>T | |
| XR_926136.1:n.1476+26761C>T | ||
| XM_005248997.3:c.174C>T | XP_005249054.1:p.Phe58= | |
| XM_006715052.3:c.925+26761C>T | XP_006715115.1:n.925+26761C>T | |
| XR_002956275.1:n.1476+26761C>T | ||
| XR_926136.2:n.1474+26761C>T | ||
| NM_001374747.1:c.925+26761C>T | NP_001361676.1:n.925+26761C>T | |
| NM_001491.3:c.174C>T MANE Plus Clinical | NP_001482.1:p.Phe58= | |
| NM_145649.5:c.925+26761C>T MANE Select | NP_663624.1:n.925+26761C>T |