Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922933C>A , CM000679.2:g.74922933C>A | GRCh38 |
| NC_000017.10:g.72919028C>A , CM000679.1:g.72919028C>A | GRCh37 |
| NC_000017.9:g.70430623C>A | NCBI36 |
| NG_007882.1:g.5324G>T | |
| NG_033062.1:g.3659C>A | |
| NG_007882.2:g.5331G>T | |
| NG_033062.2:g.3659C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.141G>T MANE Select | ENSP00000480279.1:p.Ser47= | |
| ENST00000579243.1:c.141G>T | ENSP00000462568.1:p.Ser47= | |
| ENST00000614341.4:c.141G>T | ENSP00000480279.1:p.Ser47= | |
| NM_001282489.2:c.-116G>T | NP_001269418.1:n.-116G>T | |
| NM_173477.4:c.141G>T | NP_775748.2:p.Ser47= | |
| NM_173477.5:c.141G>T MANE Select | NP_775748.2:p.Ser47= | |
| NM_001282489.3:c.-116G>T | NP_001269418.1:n.-116G>T |