gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000434 (NFE)
Exomes Max Group AF
0.00000461 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50187867C>A , CM000679.2:g.50187867C>A | GRCh38 |
| NC_000017.10:g.48265228C>A , CM000679.1:g.48265228C>A | GRCh37 |
| NC_000017.9:g.45620227C>A | NCBI36 |
| NG_007400.1:g.18773G>T , LRG_1:g.18773G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3369+9G>T MANE Select | ENSP00000225964.6:n.3369+9G>T | |
| ENST00000225964.9:c.3369+9G>T | ENSP00000225964.5:n.3369+9G>T | |
| ENST00000486572.1:n.576G>T | ||
| NM_000088.3:c.3369+9G>T , LRG_1t1:c.3369+9G>T | NP_000079.2:n.3369+9G>T | |
| XM_005257058.3:c.3099+9G>T | XP_005257115.2:n.3099+9G>T | |
| XM_005257059.3:c.2451+9G>T | XP_005257116.2:n.2451+9G>T | |
| XM_011524341.1:c.3171+9G>T | XP_011522643.1:n.3171+9G>T | |
| XM_005257058.4:c.3099+9G>T | XP_005257115.2:n.3099+9G>T | |
| XM_005257059.4:c.2451+9G>T | XP_005257116.2:n.2451+9G>T | |
| NM_000088.4:c.3369+9G>T MANE Select | NP_000079.2:n.3369+9G>T |