gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42170868 (SAS)
Genomes Max Group AF
0.42170868 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.43803185C>T , CM000669.2:g.43803185C>T | GRCh38 |
| NC_000007.13:g.43842784C>T , CM000669.1:g.43842784C>T | GRCh37 |
| NC_000007.12:g.43809309C>T | NCBI36 |
| NG_031876.1:g.49513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265523.9:c.461-491C>T MANE Select | ENSP00000265523.4:n.461-491C>T | |
| ENST00000265523.8:c.461-491C>T | ENSP00000265523.4:n.461-491C>T | |
| ENST00000402924.5:c.461-491C>T | ENSP00000385757.1:n.461-491C>T | |
| ENST00000486984.1:n.165-491C>T | ||
| NM_000712.3:c.461-491C>T | NP_000703.2:n.461-491C>T | |
| NM_001253823.1:c.461-491C>T | NP_001240752.1:n.461-491C>T | |
| XM_011515474.1:c.461-491C>T | XP_011513776.1:n.461-491C>T | |
| XR_428136.2:n.265-17427G>A | ||
| XR_927212.1:n.265-17427G>A | ||
| XR_927213.1:n.265-17427G>A | ||
| XM_011515474.3:c.461-491C>T | XP_011513776.1:n.461-491C>T | |
| XM_017012520.2:c.461-491C>T | XP_016868009.1:n.461-491C>T | |
| XM_024446867.1:c.461-491C>T | XP_024302635.1:n.461-491C>T | |
| XR_001745190.1:n.266-17427G>A | ||
| NM_000712.4:c.461-491C>T MANE Select | NP_000703.2:n.461-491C>T | |
| NM_001253823.2:c.461-491C>T | NP_001240752.1:n.461-491C>T |