MyVariant.info:
GRCh38
chr11:g.1090036T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79926981 (NFE)
Genomes Max Group AF
0.79614404 (NFE)
Exomes Max Group AF
0.79915759 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1090036T>C , CM000673.2:g.1090036T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.3474T>C | ||
| ENST00000675028.1:c.3447T>C | ENSP00000502432.1:p.Asn1149= | |
| NM_002457.3:c.3447T>C | NP_002448.3:p.Asn1149= |