gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002399 (NFE)
Exomes Max Group AF
0.00002546 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73653844C>A , CM000668.2:g.73653844C>A | GRCh38 |
| NC_000006.11:g.74363567C>A , CM000668.1:g.74363567C>A | GRCh37 |
| NC_000006.10:g.74420288C>A | NCBI36 |
| NG_008272.1:g.5171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.43G>T MANE Select | ENSP00000348019.5:p.Glu15Ter | |
| ENST00000355773.5:c.43G>T | ENSP00000348019.5:p.Glu15Ter | |
| NM_012434.4:c.43G>T | NP_036566.1:p.Glu15Ter | |
| XM_011535750.1:c.43G>T | XP_011534052.1:p.Glu15Ter | |
| XM_011535751.1:c.43G>T | XP_011534053.1:p.Glu15Ter | |
| NM_012434.5:c.43G>T MANE Select | NP_036566.1:p.Glu15Ter | |
| NM_001382629.1:c.9G>T | NP_001369558.1:p.Arg3Ser | |
| NM_001382630.1:c.43G>T | NP_001369559.1:p.Glu15Ter | |
| NM_001382631.1:c.43G>T | NP_001369560.1:p.Glu15Ter | |
| NM_001382632.1:c.43G>T | NP_001369561.1:p.Glu15Ter | |
| NM_001382633.1:c.43G>T | NP_001369562.1:p.Glu15Ter | |
| NM_001382634.1:c.43G>T | NP_001369563.1:p.Glu15Ter | |
| NM_001382635.1:c.43G>T | NP_001369564.1:p.Glu15Ter | |
| NM_001382636.1:c.9G>T | NP_001369565.1:p.Arg3Ser |