Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122402G= , CM000668.2:g.18122402G= | GRCh38 |
| NC_000006.11:g.18122633G= , CM000668.1:g.18122633G= | GRCh37 |
| NC_000006.10:g.18230612G= | NCBI36 |
| NG_016750.1:g.5219C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.205C= MANE Select | NP_940988.2:p.Pro69= |
| ENST00000340650.6:c.205C= MANE Select | ENSP00000345464.3:p.Pro69= |
| NM_198586.2:c.205C= | NP_940988.2:p.Pro69= |
| ENST00000340650.4:c.205C= | ENSP00000345464.3:p.Pro69= |