gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00334853 (AFR)
Genomes Max Group AF
0.00347692 (AFR)
Exomes Max Group AF
0.00287095 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99612948C>T , CM000666.2:g.99612948C>T | GRCh38 |
| NC_000004.11:g.100534105C>T , CM000666.1:g.100534105C>T | GRCh37 |
| NC_000004.10:g.100753128C>T | NCBI36 |
| NG_011469.1:g.53866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2025C>T MANE Select | ENSP00000265517.5:p.Ile675= | |
| ENST00000457717.6:c.2025C>T | ENSP00000400821.1:p.Ile675= | |
| ENST00000511045.6:c.1776C>T | ENSP00000427679.2:p.Ile592= | |
| ENST00000265517.9:c.2025C>T | ENSP00000265517.5:p.Ile675= | |
| ENST00000457717.5:c.2025C>T | ENSP00000400821.1:p.Ile675= | |
| ENST00000511045.5:c.2106C>T | ENSP00000427679.1:p.Ile702= | |
| ENST00000619629.1:c.*472C>T | ENSP00000482850.1:n.*472C>T | |
| NM_000253.3:c.2025C>T | NP_000244.2:p.Ile675= | |
| NM_001300785.1:c.2106C>T | NP_001287714.1:p.Ile702= | |
| NM_000253.4:c.2025C>T | NP_000244.2:p.Ile675= | |
| NM_001300785.2:c.1776C>T | NP_001287714.2:p.Ile592= | |
| NM_001386140.1:c.2025C>T MANE Select | NP_001373069.1:p.Ile675= |