Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851230G= , CM000668.2:g.131851230G= | GRCh38 |
| NC_000006.11:g.132172370G= , CM000668.1:g.132172370G= | GRCh37 |
| NC_000006.10:g.132214063G= | NCBI36 |
| NG_008206.1:g.48215G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.519G= MANE Select | ENSP00000498074.1:p.Lys173= | |
| ENST00000650147.1:c.197G= | ||
| ENST00000650437.1:c.108+1124G= | ||
| ENST00000360971.6:c.519G= | ENSP00000354238.2:p.Lys173= | |
| ENST00000486853.1:n.539G= | ||
| ENST00000513998.5:c.519G= | ENSP00000422424.1:p.Lys173= | |
| NM_006208.2:c.519G= | NP_006199.2:p.Lys173= | |
| NM_006208.3:c.519G= MANE Select | NP_006199.2:p.Lys173= |