Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55332539C>G , CM000674.2:g.55332539C>G | GRCh38 |
| NC_000012.11:g.55726323C>G , CM000674.1:g.55726323C>G | GRCh37 |
| NC_000012.10:g.54012590C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001388498.1:c.839C>G MANE Select | NP_001375427.1:p.Pro280Arg |
| ENST00000641740.2:c.839C>G MANE Select | ENSP00000493380.1:p.Pro280Arg |
| NM_054104.1:c.839C>G | NP_473445.1:p.Pro280Arg |
| NM_054104.2:c.839C>G | NP_473445.1:p.Pro280Arg |
| ENST00000379667.1:c.839C>G | ENSP00000368989.1:p.Pro280Arg |
| ENST00000641364.1:c.839C>G | ENSP00000493034.1:p.Pro280Arg |
| ENST00000641740.1:c.839C>G | ENSP00000493380.1:p.Pro280Arg |