Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88691755C>T , CM000664.2:g.88691755C>T | GRCh38 |
| NC_000002.11:g.88991273C>T , CM000664.1:g.88991273C>T | GRCh37 |
| NC_000002.10:g.88772388C>T | NCBI36 |
| NG_016710.1:g.5098C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.57C>T MANE Select | NP_653164.2:p.Pro19= |
| ENST00000283646.5:c.57C>T MANE Select | ENSP00000283646.3:p.Pro19= |
| NM_144563.2:c.57C>T | NP_653164.2:p.Pro19= |
| ENST00000283646.4:c.57C>T | ENSP00000283646.3:p.Pro19= |
| XR_939673.1:n.108C>T |