Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086421T= , CM000672.2:g.103086421T= | GRCh38 |
| NC_000010.10:g.104846178T= , CM000672.1:g.104846178T= | GRCh37 |
| NC_000010.9:g.104836168T= | NCBI36 |
| NG_042272.1:g.111886A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017649.5:c.*9241T= MANE Select | NP_060119.3:n.*9241T= |
| ENST00000369878.9:c.*9241T= MANE Select | ENSP00000358894.3:n.*9241T= |
| NM_199076.3:c.*9241T= | NP_951058.1:n.*9241T= |
| ENST00000369878.8:c.*9241T= | ENSP00000358894.3:n.*9241T= |
| XR_001747118.1:n.12122T= | |
| XR_001747121.1:n.12086T= |