gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013272 (NFE)
Genomes Max Group AF
0.00015896 (NFE)
Exomes Max Group AF
0.00012645 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79487838C>T , CM000668.2:g.79487838C>T | GRCh38 |
| NC_000006.11:g.80197555C>T , CM000668.1:g.80197555C>T | GRCh37 |
| NC_000006.10:g.80254274C>T | NCBI36 |
| NG_016011.1:g.54593G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1260G>A MANE Select | ENSP00000358861.4:p.Lys420= | |
| ENST00000369846.8:c.1260G>A | ENSP00000358861.4:p.Lys420= | |
| ENST00000392959.5:c.1260G>A | ENSP00000376686.1:p.Lys420= | |
| ENST00000467898.3:c.*1184G>A | ENSP00000474463.1:n.*1184G>A | |
| NM_001122769.2:c.1260G>A | NP_001116241.1:p.Lys420= | |
| NM_181714.3:c.1260G>A | NP_859065.2:p.Lys420= | |
| XM_005248665.3:c.1260G>A | XP_005248722.1:p.Lys420= | |
| XM_011535504.1:c.1260G>A | XP_011533806.1:p.Lys420= | |
| XR_942715.1:n.544-595C>T | ||
| XR_942716.1:n.506-595C>T | ||
| XR_942717.1:n.778-595C>T | ||
| XM_005248665.4:c.1260G>A | XP_005248722.1:p.Lys420= | |
| XR_001744213.1:n.2169-595C>T | ||
| XR_001744214.1:n.2131-595C>T | ||
| NM_001122769.3:c.1260G>A MANE Select | NP_001116241.1:p.Lys420= | |
| NM_181714.4:c.1260G>A | NP_859065.2:p.Lys420= |