Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30197937T>A , CM000679.2:g.30197937T>A | GRCh38 |
| NC_000017.10:g.28524955T>A , CM000679.1:g.28524955T>A | GRCh37 |
| NC_000017.9:g.25549081T>A | NCBI36 |
| NG_011747.2:g.43000A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.*519A>T MANE Select | NP_001036.1:n.*519A>T |
| ENST00000650711.1:c.*519A>T MANE Select | ENSP00000498537.1:n.*519A>T |
| NM_001045.5:c.*519A>T | NP_001036.1:n.*519A>T |
| ENST00000261707.7:c.*519A>T | ENSP00000261707.3:n.*519A>T |
| ENST00000401766.6:c.*519A>T | ENSP00000385822.2:n.*519A>T |
| ENST00000579221.5:c.1053A>T |