Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372107A>G , CM000680.2:g.60372107A>G | GRCh38 |
| NC_000018.9:g.58039340A>G , CM000680.1:g.58039340A>G | GRCh37 |
| NC_000018.8:g.56190320A>G | NCBI36 |
| NG_016441.1:g.5662T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.243T>C MANE Select | ENSP00000299766.3:p.Phe81= | |
| ENST00000299766.4:c.243T>C | ENSP00000299766.3:p.Phe81= | |
| NM_005912.2:c.243T>C | NP_005903.2:p.Phe81= | |
| NM_005912.3:c.243T>C MANE Select | NP_005903.2:p.Phe81= |