gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68557327A>T , CM000678.2:g.68557327A>T | GRCh38 |
| NC_000016.9:g.68591230A>T , CM000678.1:g.68591230A>T | GRCh37 |
| NC_000016.8:g.67148731A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563169.7:c.34-671A>T MANE Select | ENSP00000454418.2:n.34-671A>T | |
| ENST00000398253.6:c.34-671A>T | ENSP00000381304.2:n.34-671A>T | |
| ENST00000562156.5:c.34-671A>T | ENSP00000458051.1:n.34-671A>T | |
| ENST00000563169.6:c.34-671A>T | ENSP00000454418.2:n.34-671A>T | |
| ENST00000564323.5:c.34-671A>T | ENSP00000463193.1:n.34-671A>T | |
| ENST00000564558.5:c.34-671A>T | ENSP00000457129.1:n.34-671A>T | |
| ENST00000566573.5:n.370+36A>T | ||
| ENST00000569109.5:c.34-713A>T | ENSP00000458323.1:n.34-713A>T | |
| ENST00000569323.5:c.34-671A>T | ENSP00000454391.1:n.34-671A>T | |
| ENST00000570495.5:c.34-671A>T | ENSP00000460547.1:n.34-671A>T | |
| ENST00000570884.1:n.410-671A>T | ||
| ENST00000571382.5:c.34-671A>T | ENSP00000458920.1:n.34-671A>T | |
| ENST00000571809.5:c.34-671A>T | ENSP00000460982.1:n.34-671A>T | |
| ENST00000573685.5:c.34-671A>T | ENSP00000459944.1:n.34-671A>T | |
| ENST00000576305.5:c.34-671A>T | ENSP00000460560.1:n.34-671A>T | |
| ENST00000576805.5:c.34-671A>T | ENSP00000458276.1:n.34-671A>T | |
| ENST00000611381.4:c.34-671A>T | ENSP00000480309.1:n.34-671A>T | |
| NM_001305203.1:c.34-671A>T | NP_001292132.1:n.34-671A>T | |
| NM_001305204.1:c.34-671A>T | NP_001292133.1:n.34-671A>T | |
| NM_001305206.1:c.34-671A>T | NP_001292135.1:n.34-671A>T | |
| NM_001305207.1:c.34-671A>T | NP_001292136.1:n.34-671A>T | |
| NM_001305208.1:c.34-671A>T | NP_001292137.1:n.34-671A>T | |
| NM_133458.2:c.34-671A>T | NP_597715.2:n.34-671A>T | |
| NM_133458.3:c.34-671A>T | NP_597715.2:n.34-671A>T | |
| NR_130976.1:n.336-671A>T | ||
| NR_130977.1:n.286-671A>T | ||
| NR_130978.1:n.344-671A>T | ||
| XM_005255804.2:c.34-671A>T | XP_005255861.1:n.34-671A>T | |
| XM_011522873.1:c.34-671A>T | XP_011521175.1:n.34-671A>T | |
| XM_017022952.2:c.286-671A>T | XP_016878441.1:n.286-671A>T | |
| XM_024450159.1:c.34-671A>T | XP_024305927.1:n.34-671A>T | |
| NM_001305203.2:c.34-671A>T MANE Select | NP_001292132.1:n.34-671A>T | |
| NM_001305206.2:c.34-671A>T | NP_001292135.1:n.34-671A>T | |
| NM_001305207.2:c.34-671A>T | NP_001292136.1:n.34-671A>T | |
| NM_001305208.2:c.34-671A>T | NP_001292137.1:n.34-671A>T | |
| NM_133458.4:c.34-671A>T | NP_597715.2:n.34-671A>T | |
| NR_130976.2:n.258-671A>T | ||
| NR_130977.2:n.208-671A>T | ||
| NR_130978.2:n.266-671A>T | ||
| NM_001305204.2:c.34-671A>T | NP_001292133.1:n.34-671A>T |