gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012662 (NFE)
Genomes Max Group AF
0.00012966 (NFE)
Exomes Max Group AF
0.00012153 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17724333C>T , CM000685.2:g.17724333C>T | GRCh38 |
| NC_000023.10:g.17742453C>T , CM000685.1:g.17742453C>T | GRCh37 |
| NC_000023.9:g.17652374C>T | NCBI36 |
| NG_011553.2:g.353914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1538C>T | ||
| ENST00000690213.1:n.3023C>T | ||
| ENST00000676302.1:c.1143C>T MANE Select | ENSP00000502262.1:p.Cys381= | |
| ENST00000380060.7:c.1080C>T | ENSP00000369400.3:p.Cys360= | |
| ENST00000398097.7:c.612C>T | ENSP00000381170.3:p.Cys204= | |
| ENST00000485305.1:n.372C>T | ||
| ENST00000615422.1:c.603C>T | ENSP00000480113.1:p.Cys201= | |
| ENST00000617601.4:c.531C>T | ENSP00000478433.1:p.Cys177= | |
| NM_001136024.3:c.612C>T | NP_001129496.1:p.Cys204= | |
| NM_001291867.1:c.1143C>T | NP_001278796.1:p.Cys381= | |
| NM_001291868.1:c.549C>T | NP_001278797.1:p.Cys183= | |
| NM_198270.3:c.1080C>T | NP_938011.1:p.Cys360= | |
| XM_011545528.1:c.195C>T | XP_011543830.1:p.Cys65= | |
| XM_011545528.2:c.195C>T | XP_011543830.1:p.Cys65= | |
| NM_001136024.4:c.612C>T | NP_001129496.1:p.Cys204= | |
| NM_001291867.2:c.1143C>T MANE Select | NP_001278796.1:p.Cys381= | |
| NM_001291868.2:c.549C>T | NP_001278797.1:p.Cys183= | |
| NM_198270.4:c.1080C>T | NP_938011.1:p.Cys360= |