Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14130755T= , CM000665.2:g.14130755T= | GRCh38 |
| NC_000003.11:g.14172255T= , CM000665.1:g.14172255T= | GRCh37 |
| NC_000003.10:g.14147256T= | NCBI36 |
| NG_008975.1:g.10816T= , LRG_435:g.10816T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*193-67T= | ENSP00000395617.1:n.*193-67T= | |
| ENST00000306077.5:c.163-67T= MANE Select | ENSP00000303992.5:n.163-67T= | |
| ENST00000306077.4:c.163-67T= | ENSP00000303992.4:n.163-67T= | |
| ENST00000432444.1:c.*193-67T= | ENSP00000395617.1:n.*193-67T= | |
| NM_024334.2:c.163-67T= , LRG_435t1:c.163-67T= | NP_077310.1:n.163-67T= | |
| XM_011534109.1:c.58-67T= | XP_011532411.1:n.58-67T= | |
| XM_017007176.2:c.58-67T= | XP_016862665.1:n.58-67T= | |
| NM_024334.3:c.163-67T= MANE Select | NP_077310.1:n.163-67T= |