gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000184 (NFE)
Exomes Max Group AF
0.00000133 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26489209A>C , CM000664.2:g.26489209A>C | GRCh38 |
| NC_000002.11:g.26712077A>C , CM000664.1:g.26712077A>C | GRCh37 |
| NC_000002.10:g.26565581A>C | NCBI36 |
| NG_009937.1:g.74490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1045+2T>G MANE Select | ENSP00000272371.2:n.1045+2T>G | |
| ENST00000272371.6:c.1045+2T>G | ENSP00000272371.2:n.1045+2T>G | |
| ENST00000403946.7:c.1045+2T>G | ENSP00000385255.3:n.1045+2T>G | |
| NM_001287489.1:c.1045+2T>G | NP_001274418.1:n.1045+2T>G | |
| NM_194248.2:c.1045+2T>G | NP_919224.1:n.1045+2T>G | |
| XM_005264644.2:c.1090+2T>G | XP_005264701.1:n.1090+2T>G | |
| XM_011533185.1:c.1090+2T>G | XP_011531487.1:n.1090+2T>G | |
| XM_017005338.1:c.1045+2T>G | XP_016860827.1:n.1045+2T>G | |
| NM_001287489.2:c.1045+2T>G | NP_001274418.1:n.1045+2T>G | |
| NM_194248.3:c.1045+2T>G MANE Select | NP_919224.1:n.1045+2T>G |