Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139402C= , CM000668.2:g.31139402C= | GRCh38 |
| NC_000006.11:g.31107179C= , CM000668.1:g.31107179C= | GRCh37 |
| NC_000006.10:g.31215158C= | NCBI36 |
| NG_021348.1:g.29572C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.168-239C= MANE Select | ENSP00000259881.9:n.168-239C= | |
| ENST00000259881.9:c.168-239C= | ENSP00000259881.9:n.168-239C= | |
| ENST00000479581.5:n.62-239C= | ||
| ENST00000481450.2:c.-22-239C= | ENSP00000447158.1:n.-22-239C= | |
| ENST00000547221.1:c.24-239C= | ENSP00000449471.1:n.24-239C= | |
| ENST00000552747.1:n.1097C= | ||
| NM_014068.2:c.168-239C= | NP_054787.2:n.168-239C= | |
| NM_014068.3:c.168-239C= MANE Select | NP_054787.2:n.168-239C= |