Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149986472G>T , CM000667.2:g.149986472G>T | GRCh38 |
| NC_000005.9:g.149366035G>T , CM000667.1:g.149366035G>T | GRCh37 |
| NC_000005.8:g.149346228G>T | NCBI36 |
| NG_007147.2:g.27590G>T , LRG_684:g.27590G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.*4659G>T MANE Select | NP_000103.2:n.*4659G>T |
| ENST00000286298.5:c.*4659G>T MANE Select | ENSP00000286298.4:n.*4659G>T |
| NM_000112.3:c.*4659G>T , LRG_684t1:c.*4659G>T | NP_000103.2:n.*4659G>T |
| ENST00000286298.4:c.*4659G>T | ENSP00000286298.4:n.*4659G>T |
| ENST00000503336.1:c.373-6738G>T | ENSP00000426053.1:n.373-6738G>T |
| XM_017009191.2:c.*4556G>T | XP_016864680.1:n.*4556G>T |