Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104035287C>A , CM000672.2:g.104035287C>A | GRCh38 |
| NC_000010.10:g.105795045C>A , CM000672.1:g.105795045C>A | GRCh37 |
| NC_000010.9:g.105785035C>A | NCBI36 |
| NG_007069.1:g.55594G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.3595G>T MANE Select | NP_000485.3:p.Glu1199Ter |
| ENST00000648076.2:c.3595G>T MANE Select | ENSP00000497653.1:p.Glu1199Ter |
| NM_000494.3:c.3595G>T | NP_000485.3:p.Glu1199Ter |
| ENST00000353479.9:c.3595G>T | ENSP00000340937.5:p.Glu1199Ter |
| ENST00000369733.7:c.3373+187G>T | ENSP00000358748.3:n.3373+187G>T |
| ENST00000369733.8:c.3373+187G>T | ENSP00000358748.3:n.3373+187G>T |