gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53731931 (NFE)
Genomes Max Group AF
0.53731931 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25449242A>T , CM000663.2:g.25449242A>T | GRCh38 |
| NC_000001.10:g.25775733A>T , CM000663.1:g.25775733A>T | GRCh37 |
| NC_000001.9:g.25648320A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374343.5:c.349+308A>T MANE Select | ENSP00000363463.4:n.349+308A>T | |
| ENST00000647928.1:c.349+308A>T | ENSP00000497738.1:n.349+308A>T | |
| ENST00000374343.4:c.349+308A>T | ENSP00000363463.4:n.349+308A>T | |
| ENST00000399766.7:c.349+308A>T | ENSP00000382668.3:n.349+308A>T | |
| ENST00000470035.1:n.42+308A>T | ||
| NM_001282564.1:c.349+308A>T | NP_001269493.1:n.349+308A>T | |
| NM_018202.5:c.349+308A>T | NP_060672.2:n.349+308A>T | |
| XM_005245931.1:c.349+308A>T | XP_005245988.1:n.349+308A>T | |
| XM_011541704.1:c.-263+308A>T | XP_011540006.1:n.-263+308A>T | |
| XM_005245931.2:c.349+308A>T | XP_005245988.1:n.349+308A>T | |
| XM_011541704.3:c.-263+308A>T | XP_011540006.1:n.-263+308A>T | |
| NM_018202.6:c.349+308A>T MANE Select | NP_060672.2:n.349+308A>T | |
| NM_001282564.2:c.349+308A>T | NP_001269493.1:n.349+308A>T |