Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38252996C= , CM000677.2:g.38252996C= | GRCh38 |
| NC_000015.9:g.38545197C= , CM000677.1:g.38545197C= | GRCh37 |
| NC_000015.8:g.36332489C= | NCBI36 |
| NG_008980.1:g.5146C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.-190C= MANE Select | ENSP00000299084.4:n.-190C= | |
| ENST00000299084.8:c.-190C= | ENSP00000299084.4:n.-190C= | |
| ENST00000561205.1:n.149C= | ||
| NM_152594.2:c.-190C= | NP_689807.1:n.-190C= | |
| XM_005254202.2:c.-190C= | XP_005254259.1:n.-190C= | |
| XM_005254203.3:c.-237C= | XP_005254260.1:n.-237C= | |
| XM_005254202.3:c.-190C= | XP_005254259.1:n.-190C= | |
| XR_001751484.1:n.87+571G= | ||
| NM_152594.3:c.-190C= MANE Select | NP_689807.1:n.-190C= |