Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396616T>A , CM000676.2:g.23396616T>A | GRCh38 |
| NC_000014.8:g.23865825T>A , CM000676.1:g.23865825T>A | GRCh37 |
| NC_000014.7:g.22935665T>A | NCBI36 |
| NG_023444.1:g.16662A>T , LRG_389:g.16662A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.2292+78A>T MANE Select | ENSP00000386041.3:n.2292+78A>T | |
| ENST00000356287.3:c.2292+78A>T | ENSP00000348634.3:n.2292+78A>T | |
| ENST00000405093.7:c.2292+78A>T | ENSP00000386041.3:n.2292+78A>T | |
| NM_002471.3:c.2292+78A>T , LRG_389t1:c.2292+78A>T | NP_002462.2:n.2292+78A>T | |
| NM_002471.4:c.2292+78A>T MANE Select | NP_002462.2:n.2292+78A>T |