Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140528164G>A , CM000665.2:g.140528164G>A | GRCh38 |
| NC_000003.11:g.140247006G>A , CM000665.1:g.140247006G>A | GRCh37 |
| NC_000003.10:g.141729696G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458420.7:c.1345-4160G>A MANE Select | ENSP00000402460.2:n.1345-4160G>A | |
| ENST00000511524.1:n.1533-4160G>A | ||
| ENST00000620185.1:c.1153-4160G>A | ENSP00000478883.1:n.1153-4160G>A | |
| NM_022131.2:c.1345-4160G>A | NP_071414.2:n.1345-4160G>A | |
| XM_017007022.2:c.1270-4160G>A | XP_016862511.1:n.1270-4160G>A | |
| NM_022131.3:c.1345-4160G>A MANE Select | NP_071414.2:n.1345-4160G>A |