gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47158278A>C , CM000673.2:g.47158278A>C | GRCh38 |
| NC_000011.9:g.47179829A>C , CM000673.1:g.47179829A>C | GRCh37 |
| NC_000011.8:g.47136405A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278460.12:c.757+356A>C MANE Select | ENSP00000278460.8:n.757+356A>C | |
| ENST00000278460.11:c.757+356A>C | ENSP00000278460.7:n.757+356A>C | |
| ENST00000378615.7:c.757+356A>C | ENSP00000367878.3:n.757+356A>C | |
| ENST00000378618.6:c.757+356A>C | ENSP00000367881.2:n.757+356A>C | |
| ENST00000395460.6:c.757+356A>C | ENSP00000378844.2:n.757+356A>C | |
| ENST00000525895.5:c.*468+356A>C | ENSP00000432535.1:n.*468+356A>C | |
| ENST00000526827.1:c.535+356A>C | ENSP00000433707.1:n.535+356A>C | |
| ENST00000527234.5:n.516+356A>C | ||
| ENST00000527784.5:c.*476+356A>C | ENSP00000436571.1:n.*476+356A>C | |
| ENST00000528488.5:c.*693+356A>C | ENSP00000436595.1:n.*693+356A>C | |
| ENST00000534249.5:c.562+356A>C | ||
| ENST00000534581.1:n.433+356A>C | ||
| NM_001003676.2:c.757+356A>C | NP_001003676.1:n.757+356A>C | |
| NM_001003677.2:c.757+356A>C | NP_001003677.1:n.757+356A>C | |
| NM_001003678.2:c.757+356A>C | NP_001003678.1:n.757+356A>C | |
| NM_001278222.1:c.730+356A>C | NP_001265151.1:n.730+356A>C | |
| NM_024113.4:c.757+356A>C | NP_077018.1:n.757+356A>C | |
| NR_103471.1:n.1119+356A>C | ||
| NR_103472.1:n.743+356A>C | ||
| XM_006718315.1:c.757+356A>C | XP_006718378.1:n.757+356A>C | |
| XM_011520364.1:c.730+356A>C | XP_011518666.1:n.730+356A>C | |
| XM_011520365.1:c.757+356A>C | XP_011518667.1:n.757+356A>C | |
| XM_006718315.2:c.757+356A>C | XP_006718378.1:n.757+356A>C | |
| XM_011520364.2:c.730+356A>C | XP_011518666.1:n.730+356A>C | |
| XM_011520365.3:c.757+356A>C | XP_011518667.1:n.757+356A>C | |
| XM_017018276.2:c.757+356A>C | XP_016873765.1:n.757+356A>C | |
| XM_017018277.2:c.505+356A>C | XP_016873766.1:n.505+356A>C | |
| XM_017018278.1:c.466+356A>C | XP_016873767.1:n.466+356A>C | |
| XM_017018279.1:c.466+356A>C | XP_016873768.1:n.466+356A>C | |
| XM_017018280.1:c.466+356A>C | XP_016873769.1:n.466+356A>C | |
| XM_017018281.1:c.466+356A>C | XP_016873770.1:n.466+356A>C | |
| XM_017018282.1:c.466+356A>C | XP_016873771.1:n.466+356A>C | |
| NM_001003677.3:c.757+356A>C | NP_001003677.1:n.757+356A>C | |
| NM_001003678.3:c.757+356A>C | NP_001003678.1:n.757+356A>C | |
| NM_024113.5:c.757+356A>C MANE Select | NP_077018.1:n.757+356A>C | |
| NR_103471.2:n.1047+356A>C | ||
| NR_103472.2:n.671+356A>C | ||
| NM_001003676.3:c.757+356A>C | NP_001003676.1:n.757+356A>C |