Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229442051A>T , CM000663.2:g.229442051A>T | GRCh38 |
| NC_000001.10:g.229577798A>T , CM000663.1:g.229577798A>T | GRCh37 |
| NC_000001.9:g.227644421A>T | NCBI36 |
| NG_011969.1:g.71291T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018230.3:c.3335-11T>A MANE Select | NP_060700.2:n.3335-11T>A |
| ENST00000261396.6:c.3335-11T>A MANE Select | ENSP00000261396.3:n.3335-11T>A |
| NM_018230.2:c.3335-11T>A | NP_060700.2:n.3335-11T>A |
| ENST00000261396.5:c.3335-11T>A | ENSP00000261396.3:n.3335-11T>A |
| ENST00000490352.1:n.382-11T>A | |
| XR_001737299.2:n.3294-11T>A |