Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658608A>T , CM000682.2:g.10658608A>T | GRCh38 |
| NC_000020.10:g.10639256A>T , CM000682.1:g.10639256A>T | GRCh37 |
| NC_000020.9:g.10587256A>T | NCBI36 |
| NG_007496.1:g.20439T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.554T>A MANE Select | ENSP00000254958.4:p.Val185Glu | |
| ENST00000254958.9:c.554T>A | ENSP00000254958.4:p.Val185Glu | |
| ENST00000423891.6:n.420T>A | ||
| NM_000214.2:c.554T>A | NP_000205.1:p.Val185Glu | |
| NM_000214.3:c.554T>A MANE Select | NP_000205.1:p.Val185Glu |