gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328546G>A , CM000677.2:g.89328546G>A | GRCh38 |
| NC_000015.9:g.89871777G>A , CM000677.1:g.89871777G>A | GRCh37 |
| NC_000015.8:g.87672781G>A | NCBI36 |
| NG_008218.1:g.11250C>T | |
| NG_008218.2:g.11250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1171-11C>T | ENSP00000516154.1:n.1171-11C>T | |
| ENST00000268124.11:c.1171-11C>T MANE Select | ENSP00000268124.5:n.1171-11C>T | |
| ENST00000530292.3:c.772-11C>T | ENSP00000432885.2:n.772-11C>T | |
| ENST00000635986.2:c.1171-11C>T | ENSP00000490653.2:n.1171-11C>T | |
| ENST00000636774.1:c.1171-11C>T | ENSP00000489799.1:n.1171-11C>T | |
| ENST00000637264.1:c.243-11C>T | ||
| ENST00000666746.1:c.827+139C>T | ||
| ENST00000672071.1:n.1369-11C>T | ||
| ENST00000672923.2:n.168-11C>T | ||
| ENST00000268124.9:c.1171-11C>T | ENSP00000268124.5:n.1171-11C>T | |
| ENST00000442287.6:c.1171-11C>T | ENSP00000399851.2:n.1171-11C>T | |
| ENST00000532363.2:n.29-11C>T | ||
| ENST00000631044.2:c.*554-11C>T | ENSP00000486730.1:n.*554-11C>T | |
| NM_001126131.1:c.1171-11C>T | NP_001119603.1:n.1171-11C>T | |
| NM_002693.2:c.1171-11C>T | NP_002684.1:n.1171-11C>T | |
| NM_001126131.2:c.1171-11C>T | NP_001119603.1:n.1171-11C>T | |
| NM_002693.3:c.1171-11C>T MANE Select | NP_002684.1:n.1171-11C>T |