gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24028186 (EAS)
Genomes Max Group AF
0.24028186 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169723381T>C , CM000663.2:g.169723381T>C | GRCh38 |
| NC_000001.10:g.169692522T>C , CM000663.1:g.169692522T>C | GRCh37 |
| NC_000001.9:g.167959146T>C | NCBI36 |
| NG_012124.1:g.15699A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333360.12:c.*1144A>G (SELE) MANE Select | ENSP00000331736.7:n.*1144A>G | |
| ENST00000333360.11:c.*1144A>G (SELE) | ENSP00000331736.7:n.*1144A>G | |
| ENST00000367775.5:c.*1144A>G (SELE) | ENSP00000356749.1:n.*1144A>G | |
| ENST00000367776.5:c.*1144A>G (SELE) | ENSP00000356750.1:n.*1144A>G | |
| ENST00000367777.5:c.*1144A>G (SELE) | ENSP00000356751.1:n.*1144A>G | |
| ENST00000498289.5:n.851+39449T>C (FIRRM) | ||
| NM_000450.2:c.*1144A>G (SELE) MANE Select | NP_000441.2:n.*1144A>G |