Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32203906T>A , CM000668.2:g.32203906T>A | GRCh38 |
| NC_000006.11:g.32171683T>A , CM000668.1:g.32171683T>A | GRCh37 |
| NC_000006.10:g.32279661T>A | NCBI36 |
| NG_028190.1:g.25162A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004557.4:c.3119-24A>T MANE Select | NP_004548.3:n.3119-24A>T |
| ENST00000375023.3:c.3119-24A>T MANE Select | ENSP00000364163.3:n.3119-24A>T |
| NM_004557.3:c.3119-24A>T | NP_004548.3:n.3119-24A>T |
| NR_134949.1:n.3360-24A>T | |
| NR_134949.2:n.3360-24A>T | |
| NR_134950.1:n.3258-24A>T | |
| NR_134950.2:n.3258-24A>T | |
| ENST00000474612.1:n.35-24A>T |