Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969566A= , CM000685.2:g.154969566A= | GRCh38 |
| NC_000023.10:g.154197841A= , CM000685.1:g.154197841A= | GRCh37 |
| NC_000023.9:g.153851035A= | NCBI36 |
| NG_011403.1:g.58158T= | |
| NG_011403.2:g.58158T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.788-14T= MANE Select | ENSP00000353393.4:n.788-14T= | |
| ENST00000647125.1:c.*664-14T= | ENSP00000496062.1:n.*664-14T= | |
| ENST00000360256.8:c.788-14T= | ENSP00000353393.4:n.788-14T= | |
| NM_000132.3:c.788-14T= | NP_000123.1:n.788-14T= | |
| XM_011531126.1:c.683-14T= | XP_011529428.1:n.683-14T= | |
| NM_000132.4:c.788-14T= MANE Select | NP_000123.1:n.788-14T= |