gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011839 (SAS)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00012473 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154839G>A , CM000681.2:g.55154839G>A | GRCh38 |
| NC_000019.9:g.55666207G>A , CM000681.1:g.55666207G>A | GRCh37 |
| NC_000019.8:g.60358019G>A | NCBI36 |
| NG_007866.2:g.7894C>T , LRG_432:g.7894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.283-9C>T MANE Select | ENSP00000341838.5:n.283-9C>T | |
| ENST00000665070.1:c.283-9C>T | ENSP00000499482.1:n.283-9C>T | |
| ENST00000344887.9:c.283-9C>T | ENSP00000341838.5:n.283-9C>T | |
| ENST00000585806.5:n.282-9C>T | ||
| ENST00000586669.5:n.291-9C>T | ||
| ENST00000587176.5:n.467-9C>T | ||
| ENST00000587871.1:c.902-9C>T | ||
| ENST00000588882.1:c.208-9C>T | ENSP00000466729.1:n.208-9C>T | |
| ENST00000590463.1:n.455-9C>T | ||
| NM_000363.4:c.283-9C>T , LRG_432t1:c.283-9C>T | NP_000354.4:n.283-9C>T | |
| NM_000363.5:c.283-9C>T MANE Select | NP_000354.4:n.283-9C>T |