Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117694068G>A , CM000668.2:g.117694068G>A | GRCh38 |
| NC_000006.11:g.118015231G>A , CM000668.1:g.118015231G>A | GRCh37 |
| NC_000006.10:g.118121924G>A | NCBI36 |
| NG_054913.1:g.23615G>A | |
| NG_054913.2:g.23615G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.579G>A MANE Select | NP_612468.1:p.Pro193= |
| ENST00000368494.4:c.579G>A MANE Select | ENSP00000357480.3:p.Pro193= |
| NM_138459.3:c.579G>A | NP_612468.1:p.Pro193= |
| NM_138459.4:c.579G>A | NP_612468.1:p.Pro193= |
| ENST00000368494.3:c.579G>A | ENSP00000357480.3:p.Pro193= |