Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323280C= , CM000667.2:g.159323280C= | GRCh38 |
| NC_000005.9:g.158750288C= , CM000667.1:g.158750288C= | GRCh37 |
| NC_000005.8:g.158682866C= | NCBI36 |
| NG_009618.1:g.12194G= , LRG_71:g.12194G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2760G= | ENSP00000512849.1:n.-148-2760G= | |
| ENST00000696751.1:c.138G= | ENSP00000512850.1:p.Val46= | |
| ENST00000231228.3:c.138G= MANE Select | ENSP00000231228.2:p.Val46= | |
| ENST00000231228.2:c.138G= | ENSP00000231228.2:p.Val46= | |
| NM_002187.2:c.138G= , LRG_71t1:c.138G= | NP_002178.2:p.Val46= | |
| XR_001742945.1:n.148-2254C= | ||
| NM_002187.3:c.138G= MANE Select | NP_002178.2:p.Val46= |