gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106496751G>T , CM000674.2:g.106496751G>T | GRCh38 |
| NC_000012.11:g.106890529G>T , CM000674.1:g.106890529G>T | GRCh37 |
| NC_000012.10:g.105414659G>T | NCBI36 |
| NG_031837.1:g.144094G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.2818-1G>T MANE Select | ENSP00000228347.4:n.2818-1G>T | |
| ENST00000228347.8:c.2818-1G>T | ENSP00000228347.4:n.2818-1G>T | |
| ENST00000539066.5:c.2644-1G>T | ENSP00000445721.1:n.2644-1G>T | |
| NM_001160708.1:c.2644-1G>T | NP_001154180.1:n.2644-1G>T | |
| NM_018082.5:c.2818-1G>T | NP_060552.4:n.2818-1G>T | |
| NR_040246.1:n.433-205C>A | ||
| XM_017019621.2:c.2818-1G>T | XP_016875110.1:n.2818-1G>T | |
| NM_018082.6:c.2818-1G>T MANE Select | NP_060552.4:n.2818-1G>T | |
| NM_001160708.2:c.2644-1G>T | NP_001154180.1:n.2644-1G>T |