gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32355153 (AFR)
Genomes Max Group AF
0.32355153 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11064410C>T , CM000680.2:g.11064410C>T | GRCh38 |
| NC_000018.9:g.11064409C>T , CM000680.1:g.11064409C>T | GRCh37 |
| NC_000018.8:g.11054409C>T | NCBI36 |
| NG_034005.1:g.89353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.160+1717G>A | ENSP00000372900.4:n.160+1717G>A | |
| ENST00000686869.1:n.217+1717G>A | ||
| ENST00000688929.1:n.505+1717G>A | ||
| ENST00000674853.1:c.160+1717G>A MANE Select | ENSP00000501957.1:n.160+1717G>A | |
| ENST00000302079.10:c.160+1717G>A | ENSP00000303316.6:n.160+1717G>A | |
| ENST00000383408.6:c.7+1717G>A | ENSP00000372900.3:n.7+1717G>A | |
| ENST00000503781.7:c.160+1717G>A | ENSP00000421377.3:n.160+1717G>A | |
| ENST00000580640.5:c.160+1717G>A | ENSP00000463094.1:n.160+1717G>A | |
| ENST00000582913.5:c.160+1717G>A | ENSP00000462115.1:n.160+1717G>A | |
| NM_022068.3:c.160+1717G>A | NP_071351.2:n.160+1717G>A | |
| XM_011525723.1:c.160+1717G>A | XP_011524025.1:n.160+1717G>A | |
| XM_011525724.1:c.160+1717G>A | XP_011524026.1:n.160+1717G>A | |
| XM_011525725.1:c.160+1717G>A | XP_011524027.1:n.160+1717G>A | |
| XM_011525726.1:c.160+1717G>A | XP_011524028.1:n.160+1717G>A | |
| XM_011525727.1:c.160+1717G>A | XP_011524029.1:n.160+1717G>A | |
| XM_011525723.3:c.160+1717G>A | XP_011524025.1:n.160+1717G>A | |
| XM_011525724.3:c.160+1717G>A | XP_011524026.1:n.160+1717G>A | |
| XM_011525725.3:c.160+1717G>A | XP_011524027.1:n.160+1717G>A | |
| XM_011525726.3:c.160+1717G>A | XP_011524028.1:n.160+1717G>A | |
| XM_017025918.2:c.160+1717G>A | XP_016881407.1:n.160+1717G>A | |
| XR_001753259.2:n.1157+1717G>A | ||
| NM_001378183.1:c.160+1717G>A MANE Select | NP_001365112.1:n.160+1717G>A | |
| NM_022068.4:c.160+1717G>A | NP_071351.2:n.160+1717G>A |