Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75881378G>T , CM000663.2:g.75881378G>T | GRCh38 |
| NC_000001.10:g.76347063G>T , CM000663.1:g.76347063G>T | GRCh37 |
| NC_000001.9:g.76119651G>T | NCBI36 |
| NG_029861.1:g.89508G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002440.4:c.1906+8G>T MANE Select | NP_002431.2:n.1906+8G>T |
| ENST00000263187.4:c.1906+8G>T MANE Select | ENSP00000263187.3:n.1906+8G>T |
| NM_002440.3:c.1906+8G>T | NP_002431.2:n.1906+8G>T |
| ENST00000263187.3:c.1906+8G>T | ENSP00000263187.3:n.1906+8G>T |