Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25231776C= , CM000684.2:g.25231776C= | GRCh38 |
| NC_000022.10:g.25627743C= , CM000684.1:g.25627743C= | GRCh37 |
| NC_000022.9:g.23957743C= | NCBI36 |
| NG_009827.1:g.17132C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398215.3:c.*4C= MANE Select | ENSP00000381273.2:n.*4C= | |
| ENST00000651629.1:c.*4C= | ENSP00000498905.1:n.*4C= | |
| ENST00000398215.2:c.*4C= | ENSP00000381273.2:n.*4C= | |
| NM_000496.2:c.*4C= | NP_000487.1:n.*4C= | |
| XM_006724141.2:c.*4C= | XP_006724204.1:n.*4C= | |
| XM_011529900.1:c.*4C= | XP_011528202.1:n.*4C= | |
| XM_011529901.1:c.*4C= | XP_011528203.1:n.*4C= | |
| XM_006724141.3:c.*4C= | XP_006724204.1:n.*4C= | |
| XM_011529900.2:c.*4C= | XP_011528202.1:n.*4C= | |
| NM_000496.3:c.*4C= MANE Select | NP_000487.1:n.*4C= |