gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38984914 (MID)
Genomes Max Group AF
0.35222619 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121263761A>T , CM000669.2:g.121263761A>T | GRCh38 |
| NC_000007.13:g.120903815A>T , CM000669.1:g.120903815A>T | GRCh37 |
| NC_000007.12:g.120691051A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310396.10:c.2311-2466A>T MANE Select | ENSP00000309772.5:n.2311-2466A>T | |
| ENST00000310396.9:c.2311-2466A>T | ENSP00000309772.5:n.2311-2466A>T | |
| NM_024913.4:c.2311-2466A>T | NP_079189.4:n.2311-2466A>T | |
| XM_011516583.1:c.2311-2466A>T | XP_011514885.1:n.2311-2466A>T | |
| XR_927916.1:n.48+2900T>A | ||
| XM_024446941.1:c.1798-2466A>T | XP_024302709.1:n.1798-2466A>T | |
| NM_024913.5:c.2311-2466A>T MANE Select | NP_079189.4:n.2311-2466A>T |