Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141751A= , CM000665.2:g.14141751A= | GRCh38 |
| NC_000003.11:g.14183251A= , CM000665.1:g.14183251A= | GRCh37 |
| NC_000003.10:g.14158252A= | NCBI36 |
| NG_008975.1:g.21812A= , LRG_435:g.21812A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1189A= | ENSP00000395617.1:n.*1189A= | |
| ENST00000306077.5:c.1159A= MANE Select | ENSP00000303992.5:p.Ile387= | |
| ENST00000306077.4:c.1159A= | ENSP00000303992.4:p.Ile387= | |
| ENST00000601399.3:n.327+2454A= | ||
| ENST00000608606.1:c.236+2454A= | ||
| ENST00000626721.1:n.24A= | ||
| NM_024334.2:c.1159A= , LRG_435t1:c.1159A= | NP_077310.1:p.Ile387= | |
| XM_011534109.1:c.1054A= | XP_011532411.1:p.Ile352= | |
| XM_017007176.2:c.1054A= | XP_016862665.1:p.Ile352= | |
| NM_024334.3:c.1159A= MANE Select | NP_077310.1:p.Ile387= |