Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159231878G>A , CM000668.2:g.159231878G>A | GRCh38 |
| NC_000006.11:g.159652910G>A , CM000668.1:g.159652910G>A | GRCh37 |
| NC_000006.10:g.159572900G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032532.3:c.1370-4G>A MANE Select | NP_115921.2:n.1370-4G>A |
| ENST00000297267.14:c.1370-4G>A MANE Select | ENSP00000297267.9:n.1370-4G>A |
| NM_032532.2:c.1370-4G>A | NP_115921.2:n.1370-4G>A |
| ENST00000297267.13:c.1370-4G>A | ENSP00000297267.9:n.1370-4G>A |
| ENST00000329629.8:c.1056-4G>A | |
| XM_011536190.1:c.1301-4G>A | XP_011534492.1:n.1301-4G>A |
| XM_011536190.2:c.1301-4G>A | XP_011534492.1:n.1301-4G>A |
| XM_011536191.1:c.1019-4G>A | XP_011534493.1:n.1019-4G>A |
| XM_011536191.2:c.1019-4G>A | XP_011534493.1:n.1019-4G>A |