gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00213301 (SAS)
Genomes Max Group AF
0.00208036 (SAS)
Exomes Max Group AF
0.00207716 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420854C>T , CM000664.2:g.219420854C>T | GRCh38 |
| NC_000002.11:g.220285576C>T , CM000664.1:g.220285576C>T | GRCh37 |
| NC_000002.10:g.219993820C>T | NCBI36 |
| NG_008043.1:g.7478C>T , LRG_380:g.7478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.398C>T | ||
| ENST00000683013.1:n.312C>T | ||
| ENST00000373960.4:c.924C>T MANE Select | ENSP00000363071.3:p.Asn308= | |
| ENST00000373960.3:c.924C>T | ENSP00000363071.3:p.Asn308= | |
| ENST00000477226.5:n.396C>T | ||
| ENST00000492726.1:n.319C>T | ||
| NM_001927.3:c.924C>T , LRG_380t1:c.924C>T | NP_001918.3:p.Asn308= | |
| NM_001927.4:c.924C>T MANE Select | NP_001918.3:p.Asn308= | |
| NM_001382708.1:c.921C>T | NP_001369637.1:p.Asn307= | |
| NM_001382709.1:c.735+508C>T | NP_001369638.1:n.735+508C>T | |
| NM_001382710.1:c.924C>T | NP_001369639.1:p.Asn308= | |
| NM_001382711.1:c.924C>T | NP_001369640.1:p.Asn308= | |
| NM_001382712.1:c.924C>T | NP_001369641.1:p.Asn308= | |
| NM_001382713.1:c.654C>T | NP_001369642.1:p.Asn218= |