Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994808G= , CM000667.2:g.178994808G= | GRCh38 |
| NC_000005.9:g.178421809G= , CM000667.1:g.178421809G= | GRCh37 |
| NC_000005.8:g.178354415G= | NCBI36 |
| NG_008105.1:g.5316C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.137C= MANE Select | NP_000834.2:p.Pro46= |
| ENST00000517717.3:c.137C= MANE Select | ENSP00000430767.1:p.Pro46= |
| NM_000843.3:c.137C= | NP_000834.2:p.Pro46= |
| ENST00000231188.9:c.137C= | ENSP00000231188.5:p.Pro46= |
| ENST00000517717.1:c.137C= | ENSP00000430767.1:p.Pro46= |
| ENST00000650031.1:c.137C= | ENSP00000497110.1:p.Pro46= |