Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212889270G>A , CM000663.2:g.212889270G>A | GRCh38 |
| NC_000001.10:g.213062612G>A , CM000663.1:g.213062612G>A | GRCh37 |
| NC_000001.9:g.211129235G>A | NCBI36 |
| NG_028131.1:g.36016G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014053.4:c.1525+13G>A MANE Select | NP_054772.1:n.1525+13G>A |
| ENST00000366971.9:c.1525+13G>A MANE Select | ENSP00000355938.4:n.1525+13G>A |
| NM_014053.3:c.1525+13G>A | NP_054772.1:n.1525+13G>A |
| ENST00000366971.8:c.1525+13G>A | ENSP00000355938.4:n.1525+13G>A |
| ENST00000419102.1:c.921+13G>A | |
| ENST00000483790.1:n.352+13G>A | |
| XM_011509446.1:c.1414+13G>A | XP_011507748.1:n.1414+13G>A |
| XM_011509446.3:c.1414+13G>A | XP_011507748.1:n.1414+13G>A |
| XR_247024.1:n.1699+13G>A | |
| XR_247024.3:n.1699+13G>A |