Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16482507C>T , CM000681.2:g.16482507C>T | GRCh38 |
| NC_000019.9:g.16593318C>T , CM000681.1:g.16593318C>T | GRCh37 |
| NC_000019.8:g.16454318C>T | NCBI36 |
| NG_031959.2:g.150698G>A , LRG_422:g.150698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269881.8:c.861G>A MANE Select | ENSP00000269881.3:p.Thr287= | |
| ENST00000269881.7:c.861G>A | ENSP00000269881.2:p.Thr287= | |
| ENST00000409035.1:c.*664G>A | ENSP00000386951.2:n.*664G>A | |
| ENST00000602234.1:n.535G>A | ||
| NM_145046.4:c.861G>A , LRG_422t1:c.861G>A | NP_659483.2:p.Thr287= | |
| NM_145046.5:c.861G>A MANE Select | NP_659483.2:p.Thr287= |