gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37452053 (SAS)
Genomes Max Group AF
0.3709907 (SAS)
Exomes Max Group AF
0.3738323 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.170852920A>G , CM000664.2:g.170852920A>G | GRCh38 |
| NC_000002.11:g.171709430A>G , CM000664.1:g.171709430A>G | GRCh37 |
| NC_000002.10:g.171417676A>G | NCBI36 |
| NG_021477.1:g.41231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358196.8:c.1263+128A>G MANE Select | ENSP00000350928.3:n.1263+128A>G | |
| ENST00000358196.7:c.1263+128A>G | ENSP00000350928.3:n.1263+128A>G | |
| ENST00000414527.6:c.*448+128A>G | ENSP00000403849.1:n.*448+128A>G | |
| ENST00000478562.1:n.433A>G | ||
| ENST00000488724.5:n.363+128A>G | ||
| ENST00000493875.5:c.*97+128A>G | ENSP00000434696.1:n.*97+128A>G | |
| ENST00000625689.2:c.*97+128A>G | ENSP00000486612.1:n.*97+128A>G | |
| NM_000817.2:c.1263+128A>G | NP_000808.2:n.1263+128A>G | |
| XM_011510922.1:c.1263+128A>G | XP_011509224.1:n.1263+128A>G | |
| XM_017003756.1:c.1263+128A>G | XP_016859245.1:n.1263+128A>G | |
| XM_024452783.1:c.495+128A>G | XP_024308551.1:n.495+128A>G | |
| NM_000817.3:c.1263+128A>G MANE Select | NP_000808.2:n.1263+128A>G |