gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32864778T>C , CM000681.2:g.32864778T>C | GRCh38 |
| NC_000019.9:g.33355684T>C , CM000681.1:g.33355684T>C | GRCh37 |
| NC_000019.8:g.38047524T>C | NCBI36 |
| NG_008258.1:g.10000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.88-2A>G MANE Select | ENSP00000023064.3:n.88-2A>G | |
| ENST00000023064.8:c.88-2A>G | ENSP00000023064.3:n.88-2A>G | |
| ENST00000587772.1:c.88-2A>G | ENSP00000468439.1:n.88-2A>G | |
| ENST00000590341.5:c.88-2A>G | ENSP00000464822.1:n.88-2A>G | |
| ENST00000590465.5:c.88-440A>G | ENSP00000468076.1:n.88-440A>G | |
| ENST00000592232.5:c.88-440A>G | ENSP00000465563.1:n.88-440A>G | |
| NM_001126335.1:c.88-2A>G | NP_001119807.1:n.88-2A>G | |
| NM_001243036.1:c.88-2A>G | NP_001229965.1:n.88-2A>G | |
| NM_014270.4:c.88-2A>G | NP_055085.1:n.88-2A>G | |
| XM_006722992.1:c.-368-2A>G | XP_006723055.1:n.-368-2A>G | |
| XM_011526402.1:c.88-2A>G | XP_011524704.1:n.88-2A>G | |
| XM_011526402.3:c.88-2A>G | XP_011524704.1:n.88-2A>G | |
| XM_017026230.1:c.-29-440A>G | XP_016881719.1:n.-29-440A>G | |
| XM_024451334.1:c.-955-2A>G | XP_024307102.1:n.-955-2A>G | |
| NM_014270.5:c.88-2A>G MANE Select | NP_055085.1:n.88-2A>G | |
| NM_001126335.2:c.88-2A>G | NP_001119807.1:n.88-2A>G | |
| NM_001243036.2:c.88-2A>G | NP_001229965.1:n.88-2A>G |