Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32210996T>C , CM000668.2:g.32210996T>C | GRCh38 |
| NC_000006.11:g.32178773T>C , CM000668.1:g.32178773T>C | GRCh37 |
| NC_000006.10:g.32286751T>C | NCBI36 |
| NG_028190.1:g.18072A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.2681-60A>G MANE Select | NP_004548.3:n.2681-60A>G |
| ENST00000375023.3:c.2681-60A>G MANE Select | ENSP00000364163.3:n.2681-60A>G |
| NM_004557.3:c.2681-60A>G | NP_004548.3:n.2681-60A>G |
| NR_134949.1:n.2922-60A>G | |
| NR_134949.2:n.2922-60A>G | |
| NR_134950.1:n.2820-60A>G | |
| NR_134950.2:n.2820-60A>G | |
| ENST00000465528.1:n.554-60A>G |