gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22098679 (MID)
Genomes Max Group AF
0.18744916 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44903030C>T , CM000683.2:g.44903030C>T | GRCh38 |
| NC_000021.8:g.46322945C>T , CM000683.1:g.46322945C>T | GRCh37 |
| NC_000021.7:g.45147373C>T | NCBI36 |
| NG_007270.2:g.30809G>A , LRG_76:g.30809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.499+335G>A | ENSP00000303242.6:n.499+335G>A | |
| ENST00000652462.1:c.499+335G>A MANE Select | ENSP00000498780.1:n.499+335G>A | |
| ENST00000302347.9:c.499+335G>A | ENSP00000303242.5:n.499+335G>A | |
| ENST00000320216.10:c.472+335G>A | ENSP00000317697.6:n.472+335G>A | |
| ENST00000355153.8:c.499+335G>A | ENSP00000347279.4:n.499+335G>A | |
| ENST00000397850.6:c.499+335G>A | ENSP00000380948.2:n.499+335G>A | |
| ENST00000397852.5:c.499+335G>A | ENSP00000380950.1:n.499+335G>A | |
| ENST00000397854.7:c.329-1297G>A | ENSP00000380952.3:n.329-1297G>A | |
| ENST00000397857.5:c.499+335G>A | ENSP00000380955.1:n.499+335G>A | |
| ENST00000498666.5:n.642+335G>A | ||
| ENST00000521987.1:n.283+335G>A | ||
| ENST00000523323.5:c.*326+335G>A | ENSP00000427732.1:n.*326+335G>A | |
| ENST00000610622.4:c.329-1297G>A | ENSP00000480700.1:n.329-1297G>A | |
| NM_000211.4:c.499+335G>A | NP_000202.3:n.499+335G>A | |
| NM_001127491.2:c.499+335G>A | NP_001120963.2:n.499+335G>A | |
| NM_001303238.1:c.292+335G>A | NP_001290167.1:n.292+335G>A | |
| XM_006724001.1:c.292+335G>A | XP_006724064.1:n.292+335G>A | |
| XM_006724001.2:c.292+335G>A | XP_006724064.1:n.292+335G>A | |
| NM_000211.5:c.499+335G>A MANE Select | NP_000202.3:n.499+335G>A | |
| NM_001127491.3:c.499+335G>A | NP_001120963.2:n.499+335G>A | |
| NM_001303238.2:c.292+335G>A | NP_001290167.1:n.292+335G>A |