Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836239T= , CM000672.2:g.99836239T= | GRCh38 |
| NC_000010.10:g.101595996T= , CM000672.1:g.101595996T= | GRCh37 |
| NC_000010.9:g.101585986T= | NCBI36 |
| NG_011798.1:g.58534T= | |
| NG_011798.2:g.58642T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000392.5:c.3563T= MANE Select | NP_000383.2:p.Val1188= |
| ENST00000647814.1:c.3563T= MANE Select | ENSP00000497274.1:p.Val1188= |
| NM_000392.4:c.3563T= | NP_000383.1:p.Val1188= |
| ENST00000370449.8:c.3563T= | ENSP00000359478.4:p.Val1188= |
| XM_006717630.2:c.2867T= | XP_006717693.1:p.Val956= |
| XM_006717630.3:c.2867T= | XP_006717693.1:p.Val956= |
| XR_945604.1:n.3752T= | |
| XR_945604.3:n.3806T= | |
| XR_945605.1:n.3754T= | |
| XR_945605.3:n.3806T= |