gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89214918C>T , CM000672.2:g.89214918C>T | GRCh38 |
| NC_000010.10:g.90974675C>T , CM000672.1:g.90974675C>T | GRCh37 |
| NC_000010.9:g.90964655C>T | NCBI36 |
| NG_008194.1:g.41986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.1110G>A MANE Select | ENSP00000337354.5:p.Pro370= | |
| ENST00000336233.9:c.1110G>A | ENSP00000337354.5:p.Pro370= | |
| ENST00000371837.5:c.942G>A | ENSP00000360903.1:p.Pro314= | |
| ENST00000456827.5:c.762G>A | ENSP00000413019.2:p.Pro254= | |
| NM_000235.3:c.1110G>A | NP_000226.2:p.Pro370= | |
| NM_001127605.2:c.1110G>A | NP_001121077.1:p.Pro370= | |
| NM_001288979.1:c.762G>A | NP_001275908.1:p.Pro254= | |
| XM_024448023.1:c.1110G>A | XP_024303791.1:p.Pro370= | |
| NM_000235.4:c.1110G>A MANE Select | NP_000226.2:p.Pro370= | |
| NM_001127605.3:c.1110G>A | NP_001121077.1:p.Pro370= | |
| NM_001288979.2:c.762G>A | NP_001275908.1:p.Pro254= |