Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141515A= , CM000665.2:g.14141515A= | GRCh38 |
| NC_000003.11:g.14183015A= , CM000665.1:g.14183015A= | GRCh37 |
| NC_000003.10:g.14158016A= | NCBI36 |
| NG_008975.1:g.21576A= , LRG_435:g.21576A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432444.2:c.*1031-78A= | ENSP00000395617.1:n.*1031-78A= | |
| ENST00000306077.5:c.1001-78A= MANE Select | ENSP00000303992.5:n.1001-78A= | |
| ENST00000306077.4:c.1001-78A= | ENSP00000303992.4:n.1001-78A= | |
| ENST00000601399.3:n.327+2218A= | ||
| ENST00000608606.1:c.236+2218A= | ||
| NM_024334.2:c.1001-78A= , LRG_435t1:c.1001-78A= | NP_077310.1:n.1001-78A= | |
| XM_011534109.1:c.896-78A= | XP_011532411.1:n.896-78A= | |
| XM_017007176.2:c.896-78A= | XP_016862665.1:n.896-78A= | |
| NM_024334.3:c.1001-78A= MANE Select | NP_077310.1:n.1001-78A= |