Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61152867A>T , CM000667.2:g.61152867A>T | GRCh38 |
| NC_000005.9:g.60448694A>T , CM000667.1:g.60448694A>T | GRCh37 |
| NC_000005.8:g.60484451A>T | NCBI36 |
| NG_008978.1:g.212739A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174889.5:c.422A>T MANE Select | NP_777549.1:p.Glu141Val |
| ENST00000296597.10:c.422A>T MANE Select | ENSP00000296597.5:p.Glu141Val |
| NM_174889.4:c.422A>T | NP_777549.1:p.Glu141Val |
| ENST00000296597.9:c.422A>T | ENSP00000296597.5:p.Glu141Val |
| ENST00000502658.1:c.302A>T | |
| ENST00000511107.1:c.*195A>T | ENSP00000423377.1:n.*195A>T |
| ENST00000512623.1:n.547A>T | |
| ENST00000677756.1:c.*438A>T | ENSP00000503642.1:n.*438A>T |
| ENST00000678452.1:c.*252A>T | ENSP00000504248.1:n.*252A>T |