gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5715095A>T , CM000669.2:g.5715095A>T | GRCh38 |
| NC_000007.13:g.5754726A>T , CM000669.1:g.5754726A>T | GRCh37 |
| NC_000007.12:g.5721252A>T | NCBI36 |
| NG_029374.1:g.71636T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.1791T>A MANE Select | ENSP00000374552.3:p.Cys597Ter | |
| ENST00000389900.8:c.*908T>A | ENSP00000374550.4:n.*908T>A | |
| ENST00000389902.7:c.1791T>A | ENSP00000374552.3:p.Cys597Ter | |
| ENST00000425013.6:c.1620T>A | ENSP00000404602.2:p.Cys540Ter | |
| NM_207111.3:c.1791T>A | NP_996994.1:p.Cys597Ter | |
| NM_207116.2:c.1620T>A | NP_996999.1:p.Cys540Ter | |
| XM_005249785.2:c.1791T>A | XP_005249842.1:p.Cys597Ter | |
| XM_006715748.1:c.486T>A | XP_006715811.1:p.Cys162Ter | |
| XM_011515434.1:c.1791T>A | XP_011513736.1:p.Cys597Ter | |
| XM_011515435.1:c.1791T>A | XP_011513737.1:p.Cys597Ter | |
| XM_011515436.1:c.486T>A | XP_011513738.1:p.Cys162Ter | |
| XR_242090.1:n.1883T>A | ||
| XM_011515436.2:c.486T>A | XP_011513738.1:p.Cys162Ter | |
| XM_017012363.2:c.1620T>A | XP_016867852.1:p.Cys540Ter | |
| XM_017012364.2:c.1791T>A | XP_016867853.1:p.Cys597Ter | |
| XM_024446805.1:c.1791T>A | XP_024302573.1:p.Cys597Ter | |
| XM_024446806.1:c.486T>A | XP_024302574.1:p.Cys162Ter | |
| XM_024446807.1:c.486T>A | XP_024302575.1:p.Cys162Ter | |
| NM_001377156.1:c.1620T>A | NP_001364085.1:p.Cys540Ter | |
| NM_207111.4:c.1791T>A MANE Select | NP_996994.1:p.Cys597Ter | |
| NM_207116.3:c.1620T>A | NP_996999.1:p.Cys540Ter |