Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208596G>A , CM000679.2:g.14208596G>A | GRCh38 |
| NC_000017.10:g.14111913G>A , CM000679.1:g.14111913G>A | GRCh37 |
| NC_000017.9:g.14052638G>A | NCBI36 |
| NG_008034.1:g.144195G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001303.4:c.*1383G>A MANE Select | NP_001294.2:n.*1383G>A |
| ENST00000261643.8:c.*1383G>A MANE Select | ENSP00000261643.3:n.*1383G>A |
| NM_001303.3:c.*1383G>A | NP_001294.2:n.*1383G>A |
| ENST00000261643.7:c.*1383G>A | ENSP00000261643.3:n.*1383G>A |
| ENST00000664217.1:c.*98G>A | ENSP00000499396.1:n.*98G>A |
| ENST00000670279.1:c.929-913G>A | ENSP00000499450.1:n.929-913G>A |
| XM_011523658.1:c.*1383G>A | XP_011521960.1:n.*1383G>A |
| XR_933974.1:n.1032-913G>A |