Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898693A>T , CM000679.2:g.4898693A>T | GRCh38 |
| NC_000017.10:g.4801988A>T , CM000679.1:g.4801988A>T | GRCh37 |
| NC_000017.9:g.4742767A>T | NCBI36 |
| NG_008029.2:g.9383T>A | |
| NG_028005.1:g.70354A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*43T>A MANE Select | ENSP00000497829.1:n.*43T>A | |
| ENST00000649830.1:c.*161T>A | ENSP00000496907.1:n.*161T>A | |
| ENST00000652550.1:n.1251T>A | ||
| ENST00000293780.4:c.*43T>A | ENSP00000293780.4:n.*43T>A | |
| ENST00000572438.1:n.1211T>A | ||
| NM_000080.3:c.*43T>A | NP_000071.1:n.*43T>A | |
| NM_000080.4:c.*43T>A MANE Select | NP_000071.1:n.*43T>A | |
| XM_017024115.1:c.*43T>A | XP_016879604.1:n.*43T>A |