Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86644671C>A , CM000670.2:g.86644671C>A | GRCh38 |
| NC_000008.10:g.87656899C>A , CM000670.1:g.87656899C>A | GRCh37 |
| NC_000008.9:g.87726015C>A | NCBI36 |
| NG_016980.1:g.104005G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1006G>T MANE Select | NP_061971.3:p.Glu336Ter |
| ENST00000320005.6:c.1006G>T MANE Select | ENSP00000316605.5:p.Glu336Ter |
| NM_019098.4:c.1006G>T | NP_061971.3:p.Glu336Ter |
| ENST00000320005.5:c.1006G>T | ENSP00000316605.5:p.Glu336Ter |
| ENST00000681546.1:n.826G>T | |
| ENST00000681746.1:c.1006G>T | ENSP00000505959.1:p.Glu336Ter |
| XM_011517138.1:c.592G>T | XP_011515440.1:p.Glu198Ter |
| XM_011517138.2:c.592G>T | XP_011515440.1:p.Glu198Ter |