Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836239T>A , CM000672.2:g.99836239T>A | GRCh38 |
| NC_000010.10:g.101595996T>A , CM000672.1:g.101595996T>A | GRCh37 |
| NC_000010.9:g.101585986T>A | NCBI36 |
| NG_011798.1:g.58534T>A | |
| NG_011798.2:g.58642T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000392.5:c.3563T>A MANE Select | NP_000383.2:p.Val1188Glu |
| ENST00000647814.1:c.3563T>A MANE Select | ENSP00000497274.1:p.Val1188Glu |
| NM_000392.4:c.3563T>A | NP_000383.1:p.Val1188Glu |
| ENST00000370449.8:c.3563T>A | ENSP00000359478.4:p.Val1188Glu |
| XM_006717630.2:c.2867T>A | XP_006717693.1:p.Val956Glu |
| XM_006717630.3:c.2867T>A | XP_006717693.1:p.Val956Glu |
| XR_945604.1:n.3752T>A | |
| XR_945604.3:n.3806T>A | |
| XR_945605.1:n.3754T>A | |
| XR_945605.3:n.3806T>A |