Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410720A= , CM000673.2:g.113410720A= | GRCh38 |
| NC_000011.9:g.113281442A= , CM000673.1:g.113281442A= | GRCh37 |
| NC_000011.8:g.112786652A= | NCBI36 |
| NG_008841.1:g.69560T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.*7T= MANE Select | ENSP00000354859.3:n.*7T= | |
| ENST00000346454.7:c.*7T= | ENSP00000278597.5:n.*7T= | |
| ENST00000362072.7:c.*7T= | ENSP00000354859.3:n.*7T= | |
| ENST00000538967.5:c.1345T= | ENSP00000438215.1:n.1345T= | |
| ENST00000542968.5:c.*7T= | ENSP00000442172.1:n.*7T= | |
| ENST00000544518.5:c.*7T= | ENSP00000441068.1:n.*7T= | |
| NM_000795.3:c.*7T= | NP_000786.1:n.*7T= | |
| NM_016574.3:c.*7T= | NP_057658.2:n.*7T= | |
| XM_017017296.2:c.*7T= | XP_016872785.1:n.*7T= | |
| NM_000795.4:c.*7T= MANE Select | NP_000786.1:n.*7T= | |
| NM_016574.4:c.*7T= | NP_057658.2:n.*7T= |