ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00303959 (SAS)
Genomes Max Group AF
0.0024118 (SAS)
Exomes Max Group AF
0.00301122 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149944400C>T , CM000667.2:g.149944400C>T | GRCh38 |
| NC_000005.9:g.149323963C>T , CM000667.1:g.149323963C>T | GRCh37 |
| NC_000005.8:g.149304156C>T | NCBI36 |
| NG_009102.1:g.5394G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.274G>A MANE Select | ENSP00000255266.5:p.Asp92Asn | |
| ENST00000255266.9:c.274G>A | ENSP00000255266.5:p.Asp92Asn | |
| ENST00000508173.5:n.394G>A | ||
| ENST00000613228.1:c.274G>A | ENSP00000478060.1:p.Asp92Asn | |
| ENST00000617647.4:c.274G>A | ENSP00000482774.1:p.Asp92Asn | |
| NM_000440.2:c.274G>A | NP_000431.2:p.Asp92Asn | |
| XM_011537648.1:c.274G>A | XP_011535950.1:p.Asp92Asn | |
| XM_011537649.1:c.-72-9682G>A | XP_011535951.1:n.-72-9682G>A | |
| XM_017009572.2:c.274G>A | XP_016865061.1:p.Asp92Asn | |
| NM_000440.3:c.274G>A MANE Select | NP_000431.2:p.Asp92Asn |