Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725312G>A , CM000667.2:g.174725312G>A | GRCh38 |
| NC_000005.9:g.174152315G>A , CM000667.1:g.174152315G>A | GRCh37 |
| NC_000005.8:g.174084921G>A | NCBI36 |
| NG_008124.1:g.5741G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002449.5:c.379+274G>A MANE Select | NP_002440.2:n.379+274G>A |
| ENST00000239243.7:c.379+274G>A MANE Select | ENSP00000239243.5:n.379+274G>A |
| NM_001363626.1:c.*3+245G>A | NP_001350555.1:n.*3+245G>A |
| NM_001363626.2:c.*3+245G>A | NP_001350555.1:n.*3+245G>A |
| NM_002449.4:c.379+274G>A | NP_002440.2:n.379+274G>A |
| ENST00000239243.6:c.379+274G>A | ENSP00000239243.5:n.379+274G>A |
| ENST00000507785.2:c.*3+245G>A | ENSP00000427425.1:n.*3+245G>A |