Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23397541A>G , CM000676.2:g.23397541A>G | GRCh38 |
| NC_000014.8:g.23866750A>G , CM000676.1:g.23866750A>G | GRCh37 |
| NC_000014.7:g.22936590A>G | NCBI36 |
| NG_023444.1:g.15737T>C , LRG_389:g.15737T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.1962+2T>C MANE Select | NP_002462.2:n.1962+2T>C |
| ENST00000405093.9:c.1962+2T>C MANE Select | ENSP00000386041.3:n.1962+2T>C |
| NM_002471.3:c.1962+2T>C , LRG_389t1:c.1962+2T>C | NP_002462.2:n.1962+2T>C |
| ENST00000356287.3:c.1962+2T>C | ENSP00000348634.3:n.1962+2T>C |
| ENST00000405093.7:c.1962+2T>C | ENSP00000386041.3:n.1962+2T>C |