Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396547C>T , CM000676.2:g.23396547C>T | GRCh38 |
| NC_000014.8:g.23865756C>T , CM000676.1:g.23865756C>T | GRCh37 |
| NC_000014.7:g.22935596C>T | NCBI36 |
| NG_023444.1:g.16731G>A , LRG_389:g.16731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.2293-127G>A MANE Select | ENSP00000386041.3:n.2293-127G>A | |
| ENST00000356287.3:c.2293-127G>A | ENSP00000348634.3:n.2293-127G>A | |
| ENST00000405093.7:c.2293-127G>A | ENSP00000386041.3:n.2293-127G>A | |
| NM_002471.3:c.2293-127G>A , LRG_389t1:c.2293-127G>A | NP_002462.2:n.2293-127G>A | |
| NM_002471.4:c.2293-127G>A MANE Select | NP_002462.2:n.2293-127G>A |