gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61475465 (AFR)
Genomes Max Group AF
0.61475465 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86804135A>T , CM000669.2:g.86804135A>T | GRCh38 |
| NC_000007.13:g.86433451A>T , CM000669.1:g.86433451A>T | GRCh37 |
| NC_000007.12:g.86271387A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.1324+17019A>T MANE Select | ENSP00000355316.2:n.1324+17019A>T | |
| ENST00000361669.6:c.1324+17019A>T | ENSP00000355316.2:n.1324+17019A>T | |
| ENST00000439827.1:c.1324+17019A>T | ENSP00000398767.1:n.1324+17019A>T | |
| NM_000840.2:c.1324+17019A>T | NP_000831.2:n.1324+17019A>T | |
| XM_011516088.1:c.1324+17019A>T | XP_011514390.1:n.1324+17019A>T | |
| XM_011516089.1:c.1325-10952A>T | XP_011514391.1:n.1325-10952A>T | |
| XM_011516090.1:c.1324+17019A>T | XP_011514392.1:n.1324+17019A>T | |
| NM_001363522.1:c.1324+17019A>T | NP_001350451.1:n.1324+17019A>T | |
| NM_000840.3:c.1324+17019A>T MANE Select | NP_000831.2:n.1324+17019A>T | |
| NM_001363522.2:c.1324+17019A>T | NP_001350451.1:n.1324+17019A>T |