Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055770C= , CM000667.2:g.136055770C= | GRCh38 |
| NC_000005.9:g.135391459C= , CM000667.1:g.135391459C= | GRCh37 |
| NC_000005.8:g.135419358C= | NCBI36 |
| NG_012646.1:g.31876C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1501C= MANE Select | NP_000349.1:p.Pro501= |
| ENST00000442011.7:c.1501C= MANE Select | ENSP00000416330.2:p.Pro501= |
| NM_000358.2:c.1501C= | NP_000349.1:p.Pro501= |
| ENST00000442011.6:c.1501C= | ENSP00000416330.2:p.Pro501= |
| ENST00000506699.5:n.2018C= | |
| ENST00000507018.5:c.1479C= | |
| ENST00000509485.5:c.416C= | |
| ENST00000514242.5:n.272C= | |
| ENST00000514554.5:c.653C= |