Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63961168G>A , CM000667.2:g.63961168G>A | GRCh38 |
| NC_000005.9:g.63256995G>A , CM000667.1:g.63256995G>A | GRCh37 |
| NC_000005.8:g.63292751G>A | NCBI36 |
| NG_032816.1:g.6125C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.552C>T MANE Select | NP_000515.2:p.Pro184= |
| ENST00000323865.5:c.552C>T MANE Select | ENSP00000316244.4:p.Pro184= |
| NM_000524.3:c.552C>T | NP_000515.2:p.Pro184= |
| ENST00000323865.4:c.552C>T | ENSP00000316244.3:p.Pro184= |