Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690424C>T , CM000685.2:g.153690424C>T | GRCh38 |
| NC_000023.10:g.152955879C>T , CM000685.1:g.152955879C>T | GRCh37 |
| NC_000023.9:g.152609073C>T | NCBI36 |
| NG_012016.1:g.7128C>T | |
| NG_012016.2:g.7128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.312C>T MANE Select | ENSP00000253122.5:p.Pro104= | |
| ENST00000675713.1:n.66C>T | ||
| ENST00000253122.9:c.312C>T | ENSP00000253122.5:p.Pro104= | |
| ENST00000430077.6:c.-34C>T | ENSP00000403041.2:n.-34C>T | |
| ENST00000476466.1:n.164C>T | ||
| NM_001142805.1:c.312C>T | NP_001136277.1:p.Pro104= | |
| NM_001142806.1:c.-34C>T | NP_001136278.1:n.-34C>T | |
| NM_005629.3:c.312C>T | NP_005620.1:p.Pro104= | |
| NM_005629.4:c.312C>T MANE Select | NP_005620.1:p.Pro104= | |
| NM_001142805.2:c.312C>T | NP_001136277.1:p.Pro104= |