gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776006C>A , CM000673.2:g.2776006C>A | GRCh38 |
| NC_000011.9:g.2797236C>A , CM000673.1:g.2797236C>A | GRCh37 |
| NC_000011.8:g.2753812C>A | NCBI36 |
| NG_008935.1:g.336016C>A , LRG_287:g.336016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1280C>A | ENSP00000434560.2:p.Ser427Ter | |
| ENST00000646564.2:c.1097C>A | ENSP00000495806.2:p.Ser366Ter | |
| ENST00000155840.12:c.1637C>A MANE Select | ENSP00000155840.2:p.Ser546Ter | |
| ENST00000335475.6:c.1256C>A | ENSP00000334497.5:p.Ser419Ter | |
| ENST00000646564.1:c.743C>A | ENSP00000495806.1:p.Ser248Ter | |
| ENST00000155840.9:c.1637C>A | ENSP00000155840.2:p.Ser546Ter | |
| ENST00000335475.5:c.1256C>A | ENSP00000334497.5:p.Ser419Ter | |
| NM_000218.2:c.1637C>A , LRG_287t1:c.1637C>A | NP_000209.2:p.Ser546Ter | |
| NM_181798.1:c.1256C>A , LRG_287t2:c.1256C>A | NP_861463.1:p.Ser419Ter | |
| NM_000218.3:c.1637C>A MANE Select | NP_000209.2:p.Ser546Ter |