gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0199927 (NFE)
Genomes Max Group AF
0.01962863 (NFE)
Exomes Max Group AF
0.01994634 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232535461A>G , CM000664.2:g.232535461A>G | GRCh38 |
| NC_000002.11:g.233400171A>G , CM000664.1:g.233400171A>G | GRCh37 |
| NC_000002.10:g.233108415A>G | NCBI36 |
| NG_008028.1:g.14250A>G | |
| NG_012954.1:g.735A>G | |
| NG_012954.2:g.770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.*149A>G MANE Select | ENSP00000258385.3:n.*149A>G | |
| ENST00000258385.7:c.*149A>G | ENSP00000258385.3:n.*149A>G | |
| ENST00000441621.6:c.*885A>G | ENSP00000408819.2:n.*885A>G | |
| ENST00000543200.5:c.*149A>G | ENSP00000438380.1:n.*149A>G | |
| NM_000751.2:c.*149A>G | NP_000742.1:n.*149A>G | |
| NM_001256657.1:c.*149A>G | NP_001243586.1:n.*149A>G | |
| NM_001311195.1:c.*149A>G | NP_001298124.1:n.*149A>G | |
| NM_001311196.1:c.*149A>G | NP_001298125.1:n.*149A>G | |
| NR_046333.1:c.-4294965848A>G | ||
| NR_046334.1:c.-4294965569A>G | ||
| XM_011510524.1:c.*149A>G | XP_011508826.1:n.*149A>G | |
| XM_011510524.2:c.*149A>G | XP_011508826.1:n.*149A>G | |
| NM_000751.3:c.*149A>G MANE Select | NP_000742.1:n.*149A>G | |
| NM_001311195.2:c.*149A>G | NP_001298124.1:n.*149A>G | |
| NM_001311196.2:c.*149A>G | NP_001298125.1:n.*149A>G | |
| NM_001256657.2:c.*149A>G | NP_001243586.1:n.*149A>G |