gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00192034 (NFE)
Genomes Max Group AF
0.00178039 (NFE)
Exomes Max Group AF
0.00191469 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94080548A>G , CM000663.2:g.94080548A>G | GRCh38 |
| NC_000001.10:g.94546104A>G , CM000663.1:g.94546104A>G | GRCh37 |
| NC_000001.9:g.94318692A>G | NCBI36 |
| NG_009073.1:g.45602T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1029T>C MANE Select | ENSP00000359245.3:p.Asn343= | |
| ENST00000649773.1:c.1029T>C | ENSP00000496882.1:p.Asn343= | |
| ENST00000370225.3:c.1029T>C | ENSP00000359245.3:p.Asn343= | |
| NM_000350.2:c.1029T>C | NP_000341.2:p.Asn343= | |
| NM_000350.3:c.1029T>C MANE Select | NP_000341.2:p.Asn343= |