gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019726 (NFE)
Genomes Max Group AF
0.00026699 (NFE)
Exomes Max Group AF
0.00018661 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47438011G>A , CM000673.2:g.47438011G>A | GRCh38 |
| NC_000011.9:g.47459562G>A , CM000673.1:g.47459562G>A | GRCh37 |
| NC_000011.8:g.47416138G>A | NCBI36 |
| NG_008312.1:g.16169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.1203C>T MANE Select | ENSP00000298854.2:p.Asn401= | |
| ENST00000298854.6:c.1203C>T | ENSP00000298854.2:p.Asn401= | |
| ENST00000352508.7:c.1026C>T | ENSP00000298853.3:p.Asn342= | |
| ENST00000524487.5:c.1044C>T | ENSP00000435551.2:p.Asn348= | |
| ENST00000528356.1:n.158C>T | ||
| NM_005055.4:c.1203C>T | NP_005046.2:p.Asn401= | |
| NM_032645.4:c.1026C>T | NP_116034.2:p.Asn342= | |
| XM_005253042.2:c.1149C>T | XP_005253099.1:p.Asn383= | |
| XM_005253043.2:c.1080C>T | XP_005253100.1:p.Asn360= | |
| XM_011520252.1:c.1288C>T | XP_011518554.1:p.Leu430= | |
| XM_011520253.1:c.1227C>T | XP_011518555.1:p.Asn409= | |
| XM_005253042.3:c.1149C>T | XP_005253099.1:p.Asn383= | |
| XM_005253043.3:c.1080C>T | XP_005253100.1:p.Asn360= | |
| NM_005055.5:c.1203C>T MANE Select | NP_005046.2:p.Asn401= | |
| NM_032645.5:c.1026C>T | NP_116034.2:p.Asn342= |