gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35354493 (AMR)
Genomes Max Group AF
0.35354493 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2268343C>A , CM000679.2:g.2268343C>A | GRCh38 |
| NC_000017.10:g.2171637C>A , CM000679.1:g.2171637C>A | GRCh37 |
| NC_000017.9:g.2118387C>A | NCBI36 |
| NG_033980.1:g.40433G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263073.11:c.2661+14304G>T MANE Select | ENSP00000263073.5:n.2661+14304G>T | |
| ENST00000263073.10:c.2661+14304G>T | ENSP00000263073.5:n.2661+14304G>T | |
| NM_017575.4:c.2661+14304G>T | NP_060045.4:n.2661+14304G>T | |
| XM_005256569.2:c.2568+14304G>T | XP_005256626.1:n.2568+14304G>T | |
| XM_006721494.2:c.2661+14304G>T | XP_006721557.1:n.2661+14304G>T | |
| XM_011523769.1:c.2568+14304G>T | XP_011522071.1:n.2568+14304G>T | |
| XM_011523770.1:c.2568+14304G>T | XP_011522072.1:n.2568+14304G>T | |
| XM_011523771.1:c.2661+14304G>T | XP_011522073.1:n.2661+14304G>T | |
| XM_011523772.1:c.2661+14304G>T | XP_011522074.1:n.2661+14304G>T | |
| XM_011523774.1:c.2662-7777G>T | XP_011522076.1:n.2662-7777G>T | |
| XM_005256569.4:c.2568+14304G>T | XP_005256626.1:n.2568+14304G>T | |
| XM_011523769.2:c.2568+14304G>T | XP_011522071.1:n.2568+14304G>T | |
| XM_011523772.2:c.2661+14304G>T | XP_011522074.1:n.2661+14304G>T | |
| XM_011523774.2:c.2662-7777G>T | XP_011522076.1:n.2662-7777G>T | |
| XM_017024398.1:c.2661+14304G>T | XP_016879887.1:n.2661+14304G>T | |
| XM_017024399.2:c.-211+14304G>T | XP_016879888.1:n.-211+14304G>T | |
| XM_024450681.1:c.2568+14304G>T | XP_024306449.1:n.2568+14304G>T | |
| XR_001752459.1:n.2777+14304G>T | ||
| NM_017575.5:c.2661+14304G>T MANE Select | NP_060045.4:n.2661+14304G>T |