gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000444 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.17796901G>A , CM000683.2:g.17796901G>A | GRCh38 |
| NC_000021.8:g.19169218G>A , CM000683.1:g.19169218G>A | GRCh37 |
| NC_000021.7:g.18091089G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284881.9:c.345C>T MANE Select | ENSP00000284881.4:p.Asn115= | |
| ENST00000284881.8:c.345C>T | ENSP00000284881.4:p.Asn115= | |
| ENST00000400558.7:c.345C>T | ENSP00000383403.3:p.Asn115= | |
| ENST00000400559.7:c.345C>T | ENSP00000383404.3:p.Asn115= | |
| ENST00000405964.2:c.345C>T | ENSP00000385566.2:p.Asn115= | |
| ENST00000493464.1:n.566C>T | ||
| NM_001100420.1:c.345C>T | NP_001093890.1:p.Asn115= | |
| NM_001100421.1:c.345C>T | NP_001093891.1:p.Asn115= | |
| NM_017447.3:c.345C>T | NP_059143.3:p.Asn115= | |
| NM_001100420.2:c.345C>T MANE Select | NP_001093890.1:p.Asn115= | |
| NM_001100421.2:c.345C>T | NP_001093891.1:p.Asn115= | |
| NM_017447.4:c.345C>T | NP_059143.3:p.Asn115= |