gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16774979 (EAS)
Genomes Max Group AF
0.04225393 (EAS)
Exomes Max Group AF
0.18348418 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12842354T>C , CM000686.2:g.12842354T>C | GRCh38 |
| NC_000024.9:g.14954280T>C , CM000686.1:g.14954280T>C | GRCh37 |
| NC_000024.8:g.13463674T>C | NCBI36 |
| NG_008311.1:g.146121T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.6327T>C | ENSP00000498372.1:p.Pro2109= | |
| ENST00000338981.7:c.6327T>C MANE Select | ENSP00000342812.3:p.Pro2109= | |
| ENST00000426564.6:n.6354T>C | ||
| NM_004654.3:c.6327T>C | NP_004645.2:p.Pro2109= | |
| XM_011531469.1:c.6327T>C | XP_011529771.1:p.Pro2109= | |
| XM_011531470.1:c.6093T>C | XP_011529772.1:p.Pro2031= | |
| XM_017030078.2:c.6342T>C | XP_016885567.1:p.Pro2114= | |
| NM_004654.4:c.6327T>C MANE Select | NP_004645.2:p.Pro2109= |