gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174753594G>A , CM000664.2:g.174753594G>A | GRCh38 |
| NC_000002.11:g.175618322G>A , CM000664.1:g.175618322G>A | GRCh37 |
| NC_000002.10:g.175326568G>A | NCBI36 |
| NG_008172.1:g.15879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.198C>T | ENSP00000490338.2:p.Arg66= | |
| ENST00000672640.1:c.198C>T | ENSP00000500507.1:p.Arg66= | |
| ENST00000261007.9:c.762C>T | ENSP00000261007.5:p.Arg254= | |
| ENST00000348749.9:c.687C>T MANE Select | ENSP00000261008.5:p.Arg229= | |
| ENST00000409219.5:c.687C>T | ENSP00000386611.1:p.Arg229= | |
| ENST00000409323.1:c.687C>T | ENSP00000386684.1:p.Arg229= | |
| ENST00000409542.5:c.441C>T | ENSP00000387026.1:p.Arg147= | |
| ENST00000435083.5:c.*331C>T | ENSP00000395805.1:n.*331C>T | |
| NM_000079.3:c.687C>T | NP_000070.1:p.Arg229= | |
| NM_001039523.2:c.762C>T | NP_001034612.1:p.Arg254= | |
| XM_017003256.1:c.783C>T | XP_016858745.1:p.Arg261= | |
| XM_017003257.1:c.708C>T | XP_016858746.1:p.Arg236= | |
| NM_000079.4:c.687C>T MANE Select | NP_000070.1:p.Arg229= | |
| NM_001039523.3:c.762C>T | NP_001034612.1:p.Arg254= |