gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6555392 (EAS)
Genomes Max Group AF
0.6555392 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18924537C>T , CM000670.2:g.18924537C>T | GRCh38 |
| NC_000008.10:g.18782047C>T , CM000670.1:g.18782047C>T | GRCh37 |
| NC_000008.9:g.18826327C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327040.13:c.130+11497G>A MANE Select | ENSP00000324127.8:n.130+11497G>A | |
| ENST00000327040.12:c.130+11497G>A | ENSP00000324127.8:n.130+11497G>A | |
| ENST00000440756.4:c.130+11497G>A | ENSP00000401704.3:n.130+11497G>A | |
| ENST00000520789.1:n.746G>A | ||
| NM_015310.3:c.130+11497G>A | NP_056125.3:n.130+11497G>A | |
| XM_011544462.1:c.862+11497G>A | XP_011542764.1:n.862+11497G>A | |
| XM_011544463.1:c.169+11497G>A | XP_011542765.1:n.169+11497G>A | |
| XM_011544464.1:c.130+11497G>A | XP_011542766.1:n.130+11497G>A | |
| XM_011544465.1:c.127+11497G>A | XP_011542767.1:n.127+11497G>A | |
| XM_011544466.1:c.-66+11497G>A | XP_011542768.1:n.-66+11497G>A | |
| XM_011544467.1:c.862+11497G>A | XP_011542769.1:n.862+11497G>A | |
| XM_011544468.1:c.862+11497G>A | XP_011542770.1:n.862+11497G>A | |
| XM_011544469.1:c.862+11497G>A | XP_011542771.1:n.862+11497G>A | |
| XM_011544471.1:c.862+11497G>A | XP_011542773.1:n.862+11497G>A | |
| XM_011544472.1:c.862+11497G>A | XP_011542774.1:n.862+11497G>A | |
| XM_011544473.1:c.862+11497G>A | XP_011542775.1:n.862+11497G>A | |
| XR_949388.1:n.1080+11497G>A | ||
| XM_011544467.2:c.862+11497G>A | XP_011542769.1:n.862+11497G>A | |
| XM_011544468.2:c.862+11497G>A | XP_011542770.1:n.862+11497G>A | |
| XM_011544469.2:c.862+11497G>A | XP_011542771.1:n.862+11497G>A | |
| XM_011544471.2:c.862+11497G>A | XP_011542773.1:n.862+11497G>A | |
| XM_011544473.2:c.862+11497G>A | XP_011542775.1:n.862+11497G>A | |
| XM_017013258.1:c.190+11497G>A | XP_016868747.1:n.190+11497G>A | |
| XM_017013259.1:c.169+11497G>A | XP_016868748.1:n.169+11497G>A | |
| XM_017013260.1:c.127+11497G>A | XP_016868749.1:n.127+11497G>A | |
| XM_017013262.1:c.862+11497G>A | XP_016868751.1:n.862+11497G>A | |
| XM_017013263.1:c.862+11497G>A | XP_016868752.1:n.862+11497G>A | |
| XM_017013264.1:c.130+11497G>A | XP_016868753.1:n.130+11497G>A | |
| XM_024447113.1:c.-66+11497G>A | XP_024302881.1:n.-66+11497G>A | |
| NM_015310.4:c.130+11497G>A MANE Select | NP_056125.3:n.130+11497G>A |