ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00058935 (AFR)
Genomes Max Group AF
0.00064201 (AFR)
Exomes Max Group AF
0.00049637 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647069G>A , CM000682.2:g.10647069G>A | GRCh38 |
| NC_000020.10:g.10627717G>A , CM000682.1:g.10627717G>A | GRCh37 |
| NC_000020.9:g.10575717G>A | NCBI36 |
| NG_007496.1:g.31978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1755C>T MANE Select | ENSP00000254958.4:p.Asn585= | |
| ENST00000617965.2:n.2344C>T | ||
| ENST00000254958.9:c.1755C>T | ENSP00000254958.4:p.Asn585= | |
| ENST00000423891.6:n.1621C>T | ||
| ENST00000612857.1:n.244C>T | ||
| ENST00000613518.1:c.104C>T | ||
| ENST00000622545.1:c.486C>T | ||
| NM_000214.2:c.1755C>T | NP_000205.1:p.Asn585= | |
| NM_000214.3:c.1755C>T MANE Select | NP_000205.1:p.Asn585= |