Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246382C= , CM000674.2:g.65246382C= | GRCh38 |
| NC_000012.11:g.65640162C= , CM000674.1:g.65640162C= | GRCh37 |
| NC_000012.10:g.63926429C= | NCBI36 |
| NG_016210.1:g.81812C= | |
| NG_016210.2:g.81812C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.*57C= MANE Select | ENSP00000308369.2:n.*57C= | |
| ENST00000308330.2:c.*57C= | ENSP00000308369.2:n.*57C= | |
| ENST00000539442.1:n.775C= | ||
| ENST00000545026.1:n.611C= | ||
| NM_001167614.1:c.*57C= | NP_001161086.1:n.*57C= | |
| NM_014319.4:c.*57C= | NP_055134.2:n.*57C= | |
| NM_014319.5:c.*57C= MANE Select | NP_055134.2:n.*57C= | |
| NM_001167614.2:c.*57C= | NP_001161086.1:n.*57C= |