Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114688633G= , CM000663.2:g.114688633G= | GRCh38 |
| NC_000001.10:g.115231254G= , CM000663.1:g.115231254G= | GRCh37 |
| NC_000001.9:g.115032777G= | NCBI36 |
| NG_008012.1:g.11923C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.131C= | ENSP00000358551.4:p.Pro44= | |
| ENST00000520113.7:c.143C= MANE Select | ENSP00000430075.3:p.Pro48= | |
| ENST00000637080.1:c.146C= | ENSP00000489753.1:p.Pro49= | |
| ENST00000369538.3:c.230C= | ENSP00000358551.3:p.Pro77= | |
| ENST00000520113.6:c.242C= | ENSP00000430075.2:p.Pro81= | |
| NM_000036.2:c.242C= | NP_000027.2:p.Pro81= | |
| NM_001172626.1:c.230C= | NP_001166097.1:p.Pro77= | |
| NM_000036.3:c.143C= MANE Select | NP_000027.3:p.Pro48= | |
| NM_001172626.2:c.131C= | NP_001166097.2:p.Pro44= |