Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16480427C>T , CM000681.2:g.16480427C>T | GRCh38 |
| NC_000019.9:g.16591238C>T , CM000681.1:g.16591238C>T | GRCh37 |
| NC_000019.8:g.16452238C>T | NCBI36 |
| NG_031959.2:g.152778G>A , LRG_422:g.152778G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145046.5:c.1011+187G>A MANE Select | NP_659483.2:n.1011+187G>A |
| ENST00000269881.8:c.1011+187G>A MANE Select | ENSP00000269881.3:n.1011+187G>A |
| NM_145046.4:c.1011+187G>A , LRG_422t1:c.1011+187G>A | NP_659483.2:n.1011+187G>A |
| ENST00000269881.7:c.1011+187G>A | ENSP00000269881.2:n.1011+187G>A |
| ENST00000409035.1:c.*814+187G>A | ENSP00000386951.2:n.*814+187G>A |