gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508459T>C , CM000681.2:g.43508459T>C | GRCh38 |
| NC_000019.9:g.44012611T>C , CM000681.1:g.44012611T>C | GRCh37 |
| NC_000019.8:g.48704451T>C | NCBI36 |
| NG_008141.1:g.23786A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.595+316A>G MANE Select | ENSP00000292147.1:n.595+316A>G | |
| ENST00000292147.6:c.595+316A>G | ENSP00000292147.1:n.595+316A>G | |
| ENST00000594342.5:c.*158+316A>G | ENSP00000469652.1:n.*158+316A>G | |
| ENST00000598330.1:c.*158+316A>G | ENSP00000469219.1:n.*158+316A>G | |
| ENST00000600651.5:c.595+316A>G | ENSP00000469037.1:n.595+316A>G | |
| NM_014297.3:c.595+316A>G | NP_055112.2:n.595+316A>G | |
| XM_005258687.2:c.514+316A>G | XP_005258744.1:n.514+316A>G | |
| XM_005258688.2:c.226+316A>G | XP_005258745.1:n.226+316A>G | |
| XM_011526685.1:c.316+316A>G | XP_011524987.1:n.316+316A>G | |
| NM_001320867.1:c.562+316A>G | NP_001307796.1:n.562+316A>G | |
| NM_001320868.1:c.226+316A>G | NP_001307797.1:n.226+316A>G | |
| NM_001320869.1:c.301+316A>G | NP_001307798.1:n.301+316A>G | |
| NM_014297.4:c.595+316A>G | NP_055112.2:n.595+316A>G | |
| XM_005258687.4:c.514+316A>G | XP_005258744.1:n.514+316A>G | |
| NM_014297.5:c.595+316A>G MANE Select | NP_055112.2:n.595+316A>G | |
| NM_001320867.2:c.562+316A>G | NP_001307796.1:n.562+316A>G | |
| NM_001320868.2:c.226+316A>G | NP_001307797.1:n.226+316A>G | |
| NM_001320869.2:c.301+316A>G | NP_001307798.1:n.301+316A>G |