Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829902C>T , CM000685.2:g.68829902C>T | GRCh38 |
| NC_000023.10:g.68049745C>T , CM000685.1:g.68049745C>T | GRCh37 |
| NC_000023.9:g.67966470C>T | NCBI36 |
| NG_008887.1:g.5906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.126C>T MANE Select | ENSP00000204961.4:p.Pro42= | |
| ENST00000204961.4:c.126C>T | ENSP00000204961.4:p.Pro42= | |
| NM_004429.4:c.126C>T | NP_004420.1:p.Pro42= | |
| NM_004429.5:c.126C>T MANE Select | NP_004420.1:p.Pro42= |