Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16490357G>A , CM000681.2:g.16490357G>A | GRCh38 |
| NC_000019.9:g.16601168G>A , CM000681.1:g.16601168G>A | GRCh37 |
| NC_000019.8:g.16462168G>A | NCBI36 |
| NG_031959.2:g.142848C>T , LRG_422:g.142848C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145046.5:c.397+10C>T MANE Select | NP_659483.2:n.397+10C>T |
| ENST00000269881.8:c.397+10C>T MANE Select | ENSP00000269881.3:n.397+10C>T |
| NM_145046.4:c.397+10C>T , LRG_422t1:c.397+10C>T | NP_659483.2:n.397+10C>T |
| ENST00000269881.7:c.397+10C>T | ENSP00000269881.2:n.397+10C>T |
| ENST00000409035.1:c.*481+5394C>T | ENSP00000386951.2:n.*481+5394C>T |
| ENST00000600762.1:c.184-5100C>T |