Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133639992A>C , CM000671.2:g.133639992A>C | GRCh38 |
| NC_000009.11:g.136505114A>C , CM000671.1:g.136505114A>C | GRCh37 |
| NC_000009.10:g.135494935A>C | NCBI36 |
| NG_008645.1:g.8630A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.334-2215A>C | ENSP00000263611.3:n.334-2215A>C | |
| ENST00000393056.8:c.486A>C MANE Select | ENSP00000376776.2:p.Glu162Asp | |
| ENST00000263611.2:c.298-2215A>C | ENSP00000263611.2:n.298-2215A>C | |
| ENST00000393056.6:c.486A>C | ENSP00000376776.2:p.Glu162Asp | |
| NM_000787.3:c.486A>C | NP_000778.3:p.Glu162Asp | |
| NM_000787.4:c.486A>C MANE Select | NP_000778.3:p.Glu162Asp |