gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152303358G>T , CM000663.2:g.152303358G>T | GRCh38 |
| NC_000001.10:g.152275834G>T , CM000663.1:g.152275834G>T | GRCh37 |
| NC_000001.9:g.150542458G>T | NCBI36 |
| NG_016190.1:g.26846C>A , LRG_1028:g.26846C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.11528C>A MANE Select | ENSP00000357789.1:p.Ser3843Ter | |
| ENST00000368799.1:c.11528C>A | ENSP00000357789.1:p.Ser3843Ter | |
| NM_002016.1:c.11528C>A , LRG_1028t1:c.11528C>A | NP_002007.1:p.Ser3843Ter | |
| XM_011509329.1:c.9584C>A | XP_011507631.1:p.Ser3195Ter | |
| NM_002016.2:c.11528C>A MANE Select | NP_002007.1:p.Ser3843Ter |