Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898511A>G , CM000679.2:g.4898511A>G | GRCh38 |
| NC_000017.10:g.4801806A>G , CM000679.1:g.4801806A>G | GRCh37 |
| NC_000017.9:g.4742585A>G | NCBI36 |
| NG_008029.2:g.9565T>C | |
| NG_028005.1:g.70172A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*225T>C MANE Select | ENSP00000497829.1:n.*225T>C | |
| ENST00000649830.1:c.*343T>C | ENSP00000496907.1:n.*343T>C | |
| ENST00000652550.1:n.1433T>C | ||
| ENST00000293780.4:c.*225T>C | ENSP00000293780.4:n.*225T>C | |
| ENST00000572438.1:n.1393T>C | ||
| NM_000080.3:c.*225T>C | NP_000071.1:n.*225T>C | |
| NM_000080.4:c.*225T>C MANE Select | NP_000071.1:n.*225T>C | |
| XM_017024115.1:c.*225T>C | XP_016879604.1:n.*225T>C |