gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006763 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27203136A>T , CM000671.2:g.27203136A>T | GRCh38 |
| NC_000009.11:g.27203134A>T , CM000671.1:g.27203134A>T | GRCh37 |
| NC_000009.10:g.27193134A>T | NCBI36 |
| NG_011828.1:g.98988A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.2209+17A>T MANE Select | ENSP00000369375.4:n.2209+17A>T | |
| ENST00000380036.8:c.2209+17A>T | ENSP00000369375.4:n.2209+17A>T | |
| ENST00000406359.8:c.2080+17A>T | ENSP00000383977.4:n.2080+17A>T | |
| ENST00000519097.5:c.1768+17A>T | ENSP00000430686.1:n.1768+17A>T | |
| ENST00000615002.4:c.*710+17A>T | ENSP00000480251.1:n.*710+17A>T | |
| NM_000459.4:c.2209+17A>T | NP_000450.2:n.2209+17A>T | |
| NM_001290077.1:c.2080+17A>T | NP_001277006.1:n.2080+17A>T | |
| NM_001290078.1:c.1768+17A>T | NP_001277007.1:n.1768+17A>T | |
| XM_005251561.1:c.2209+17A>T | XP_005251618.1:n.2209+17A>T | |
| XM_005251563.1:c.2080+17A>T | XP_005251620.1:n.2080+17A>T | |
| XM_005251561.2:c.2209+17A>T | XP_005251618.1:n.2209+17A>T | |
| XM_005251563.2:c.2080+17A>T | XP_005251620.1:n.2080+17A>T | |
| NM_000459.5:c.2209+17A>T MANE Select | NP_000450.3:n.2209+17A>T | |
| NM_001375475.1:c.2209+17A>T | NP_001362404.1:n.2209+17A>T | |
| NM_001375476.1:c.2080+17A>T | NP_001362405.1:n.2080+17A>T |