Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189036334C>T , CM000664.2:g.189036334C>T | GRCh38 |
| NC_000002.11:g.189901060C>T , CM000664.1:g.189901060C>T | GRCh37 |
| NC_000002.10:g.189609305C>T | NCBI36 |
| NG_011799.1:g.148546G>A | |
| NG_011799.2:g.148546G>A | |
| NG_011799.3:g.193968G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4113+282G>A MANE Select | NP_000384.2:n.4113+282G>A |
| ENST00000374866.9:c.4113+282G>A MANE Select | ENSP00000364000.3:n.4113+282G>A |
| NM_000393.3:c.4113+282G>A | NP_000384.2:n.4113+282G>A |
| NM_000393.4:c.4113+282G>A | NP_000384.2:n.4113+282G>A |
| ENST00000374866.7:c.4113+282G>A | ENSP00000364000.3:n.4113+282G>A |
| ENST00000618828.1:c.2952+282G>A | ENSP00000482184.1:n.2952+282G>A |
| XM_011510573.1:c.3975+282G>A | XP_011508875.1:n.3975+282G>A |
| XM_011510573.3:c.3975+282G>A | XP_011508875.1:n.3975+282G>A |