| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92639901G>A , CM000672.2:g.92639901G>A | GRCh38 |
| NC_000010.10:g.94399658G>A , CM000672.1:g.94399658G>A | GRCh37 |
| NC_000010.9:g.94389638G>A | NCBI36 |
| NG_032580.1:g.51834G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_004523.4:c.2267+1G>A MANE Select | NP_004514.2:n.2267+1G>A |
| ENST00000260731.5:c.2267+1G>A MANE Select | ENSP00000260731.3:n.2267+1G>A |
| NM_004523.3:c.2267+1G>A | NP_004514.2:n.2267+1G>A |
| ENST00000260731.4:c.2267+1G>A | ENSP00000260731.3:n.2267+1G>A |
| ENST00000676621.1:c.*785+1G>A | ENSP00000503639.1:n.*785+1G>A |
| ENST00000676647.1:c.2060+1G>A | ENSP00000503394.1:n.2060+1G>A |
| ENST00000676757.1:c.2060+1G>A | ENSP00000504289.1:n.2060+1G>A |
| ENST00000677720.1:c.*241+1G>A | ENSP00000504840.1:n.*241+1G>A |