gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006285 (AFR)
Genomes Max Group AF
0.00006285 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110207G>A , CM000681.2:g.4110207G>A | GRCh38 |
| NC_000019.9:g.4110205G>A , CM000681.1:g.4110205G>A | GRCh37 |
| NC_000019.8:g.4061205G>A | NCBI36 |
| NG_007996.1:g.18922C>T , LRG_750:g.18922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.889+302C>T | ||
| ENST00000687128.1:n.889+302C>T | ||
| ENST00000262948.10:c.450+302C>T MANE Select | ENSP00000262948.4:n.450+302C>T | |
| ENST00000262948.9:c.450+302C>T | ENSP00000262948.3:n.450+302C>T | |
| ENST00000394867.8:c.159+302C>T | ENSP00000378336.1:n.159+302C>T | |
| ENST00000599345.1:n.647+302C>T | ||
| NM_030662.3:c.450+302C>T , LRG_750t1:c.450+302C>T | NP_109587.1:n.450+302C>T | |
| XM_006722799.2:c.450+302C>T | XP_006722862.1:n.450+302C>T | |
| XM_017026989.1:c.450+302C>T | XP_016882478.1:n.450+302C>T | |
| XM_017026990.1:c.450+302C>T | XP_016882479.1:n.450+302C>T | |
| XM_017026991.1:c.450+302C>T | XP_016882480.1:n.450+302C>T | |
| NM_030662.4:c.450+302C>T MANE Select | NP_109587.1:n.450+302C>T |