Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65074961G= , CM000676.2:g.65074961G= | GRCh38 |
| NC_000014.8:g.65541679G= , CM000676.1:g.65541679G= | GRCh37 |
| NC_000014.7:g.64611432G= | NCBI36 |
| NG_029830.1:g.32549C= , LRG_530:g.32549C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651648.1:c.145-4592C= | ENSP00000498863.1:n.145-4592C= | |
| ENST00000341653.6:c.171+18747C= | ENSP00000342482.2:n.171+18747C= | |
| NM_001271069.1:c.144+18747C= | NP_001257998.1:n.144+18747C= | |
| NM_197957.3:c.171+18747C= | NP_932061.1:n.171+18747C= | |
| NM_001271069.2:c.144+18747C= | NP_001257998.1:n.144+18747C= | |
| NM_197957.4:c.171+18747C= | NP_932061.1:n.171+18747C= |