Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65074869T>A , CM000676.2:g.65074869T>A | GRCh38 |
| NC_000014.8:g.65541587T>A , CM000676.1:g.65541587T>A | GRCh37 |
| NC_000014.7:g.64611340T>A | NCBI36 |
| NG_029830.1:g.32641A>T , LRG_530:g.32641A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651648.1:c.145-4500A>T | ENSP00000498863.1:n.145-4500A>T | |
| ENST00000341653.6:c.171+18839A>T | ENSP00000342482.2:n.171+18839A>T | |
| NM_001271069.1:c.144+18839A>T | NP_001257998.1:n.144+18839A>T | |
| NM_197957.3:c.171+18839A>T | NP_932061.1:n.171+18839A>T | |
| NM_001271069.2:c.144+18839A>T | NP_001257998.1:n.144+18839A>T | |
| NM_197957.4:c.171+18839A>T | NP_932061.1:n.171+18839A>T |