gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136357696G>T , CM000671.2:g.136357696G>T | GRCh38 |
| NC_000009.11:g.139252148G>T , CM000671.1:g.139252148G>T | GRCh37 |
| NC_000009.10:g.138371969G>T | NCBI36 |
| NG_028088.2:g.35153G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354753.7:c.1918-318G>T | ENSP00000346797.4:n.1918-318G>T | |
| ENST00000440944.6:c.1822-318G>T MANE Select | ENSP00000392828.1:n.1822-318G>T | |
| ENST00000291775.3:c.295-318G>T | ENSP00000291775.3:n.295-318G>T | |
| ENST00000354753.6:c.1754-318G>T | ||
| ENST00000392944.5:c.295-318G>T | ENSP00000376673.1:n.295-318G>T | |
| ENST00000429455.5:c.295-318G>T | ENSP00000390705.1:n.295-318G>T | |
| ENST00000440944.5:c.1822-318G>T | ENSP00000392828.1:n.1822-318G>T | |
| NM_001145638.2:c.1822-318G>T | NP_001139110.2:n.1822-318G>T | |
| NM_001145639.1:c.295-318G>T | NP_001139111.1:n.295-318G>T | |
| NM_001200003.1:c.295-318G>T | NP_001186932.1:n.295-318G>T | |
| XM_011518498.1:c.1918-318G>T | XP_011516800.1:n.1918-318G>T | |
| XM_011518498.2:c.1918-318G>T | XP_011516800.1:n.1918-318G>T | |
| XM_017014598.2:c.1840-318G>T | XP_016870087.1:n.1840-318G>T | |
| XM_017014599.2:c.295-318G>T | XP_016870088.1:n.295-318G>T | |
| XM_024447499.1:c.295-318G>T | XP_024303267.1:n.295-318G>T | |
| NM_001145638.3:c.1822-318G>T MANE Select | NP_001139110.2:n.1822-318G>T | |
| NM_001200003.2:c.295-318G>T | NP_001186932.1:n.295-318G>T | |
| NM_001145639.2:c.295-318G>T | NP_001139111.1:n.295-318G>T |