gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47126094 (NFE)
Genomes Max Group AF
0.47126094 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128115160G>A , CM000665.2:g.128115160G>A | GRCh38 |
| NC_000003.11:g.127834003G>A , CM000665.1:g.127834003G>A | GRCh37 |
| NC_000003.10:g.129316693G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322623.10:c.229-2140C>T MANE Select | ENSP00000318297.5:n.229-2140C>T | |
| ENST00000322623.9:c.229-2140C>T | ENSP00000318297.5:n.229-2140C>T | |
| ENST00000464873.5:c.49-2140C>T | ENSP00000420738.1:n.49-2140C>T | |
| NM_003707.2:c.229-2140C>T | NP_003698.1:n.229-2140C>T | |
| XM_005247841.2:c.49-2140C>T | XP_005247898.1:n.49-2140C>T | |
| XM_011513248.1:c.229-2140C>T | XP_011511550.1:n.229-2140C>T | |
| XM_011513249.1:c.229-2140C>T | XP_011511551.1:n.229-2140C>T | |
| XM_011513250.1:c.49-2140C>T | XP_011511552.1:n.49-2140C>T | |
| XR_924202.1:n.380-2140C>T | ||
| NM_001319084.1:c.229-2140C>T | NP_001306013.1:n.229-2140C>T | |
| NM_001319086.1:c.49-2140C>T | NP_001306015.1:n.49-2140C>T | |
| XM_005247841.4:c.49-2140C>T | XP_005247898.1:n.49-2140C>T | |
| XM_011513248.2:c.229-2140C>T | XP_011511550.1:n.229-2140C>T | |
| XM_011513249.3:c.229-2140C>T | XP_011511551.1:n.229-2140C>T | |
| XM_017007356.2:c.229-2140C>T | XP_016862845.1:n.229-2140C>T | |
| XM_017007357.2:c.49-2140C>T | XP_016862846.1:n.49-2140C>T | |
| XR_924202.2:n.327-2140C>T | ||
| NM_001319084.2:c.229-2140C>T | NP_001306013.1:n.229-2140C>T | |
| NM_003707.3:c.229-2140C>T MANE Select | NP_003698.1:n.229-2140C>T |