Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28842530C>T , CM000678.2:g.28842530C>T | GRCh38 |
| NC_000016.9:g.28853851C>T , CM000678.1:g.28853851C>T | GRCh37 |
| NC_000016.8:g.28761352C>T | NCBI36 |
| NG_008964.1:g.8879G>A | |
| NG_029706.2:g.931C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003321.5:c.*445G>A MANE Select | NP_003312.3:n.*445G>A |
| ENST00000313511.8:c.*445G>A MANE Select | ENSP00000322439.3:n.*445G>A |
| NM_001365360.1:c.*445G>A | NP_001352289.1:n.*445G>A |
| NM_001365360.2:c.*445G>A | NP_001352289.1:n.*445G>A |
| NM_003321.4:c.*445G>A | NP_003312.3:n.*445G>A |
| ENST00000313511.7:c.*445G>A | ENSP00000322439.3:n.*445G>A |
| XR_950969.1:n.484C>T |