gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82503119 (AFR)
Genomes Max Group AF
0.82503119 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99112121A>T , CM000671.2:g.99112121A>T | GRCh38 |
| NC_000009.11:g.101874403A>T , CM000671.1:g.101874403A>T | GRCh37 |
| NC_000009.10:g.100914224A>T | NCBI36 |
| NG_007461.1:g.11992A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.-111+8015A>T | ENSP00000449934.2:n.-111+8015A>T | |
| ENST00000552573.7:c.-111+8015A>T | ENSP00000447182.3:n.-111+8015A>T | |
| ENST00000698941.1:c.-111+6996A>T | ENSP00000514048.1:n.-111+6996A>T | |
| ENST00000374994.9:c.97+6819A>T MANE Select | ENSP00000364133.4:n.97+6819A>T | |
| ENST00000374990.6:c.97+6819A>T | ENSP00000364129.2:n.97+6819A>T | |
| ENST00000374994.8:c.97+6819A>T | ENSP00000364133.4:n.97+6819A>T | |
| ENST00000547314.5:c.-111+8015A>T | ENSP00000449934.1:n.-111+8015A>T | |
| ENST00000549766.5:c.97+6819A>T | ENSP00000446685.1:n.97+6819A>T | |
| ENST00000552516.5:c.97+6819A>T | ENSP00000447297.1:n.97+6819A>T | |
| ENST00000552573.6:c.-111+8015A>T | ENSP00000447182.2:n.-111+8015A>T | |
| NM_001130916.1:c.97+6819A>T | NP_001124388.1:n.97+6819A>T | |
| NM_001130916.2:c.97+6819A>T | NP_001124388.1:n.97+6819A>T | |
| NM_001306210.1:c.97+6819A>T | NP_001293139.1:n.97+6819A>T | |
| NM_004612.2:c.97+6819A>T | NP_004603.1:n.97+6819A>T | |
| NM_004612.3:c.97+6819A>T | NP_004603.1:n.97+6819A>T | |
| XM_011518949.1:c.-111+8015A>T | XP_011517251.1:n.-111+8015A>T | |
| XM_011518949.2:c.-111+8015A>T | XP_011517251.1:n.-111+8015A>T | |
| XM_017015063.1:c.-111+6996A>T | XP_016870552.1:n.-111+6996A>T | |
| NM_004612.4:c.97+6819A>T MANE Select | NP_004603.1:n.97+6819A>T | |
| NM_001130916.3:c.97+6819A>T | NP_001124388.1:n.97+6819A>T | |
| NM_001306210.2:c.97+6819A>T | NP_001293139.1:n.97+6819A>T |