Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845675C= , CM000672.2:g.99845675C= | GRCh38 |
| NC_000010.10:g.101605432C= , CM000672.1:g.101605432C= | GRCh37 |
| NC_000010.9:g.101595422C= | NCBI36 |
| NG_011798.1:g.67970C= | |
| NG_011798.2:g.68078C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4039C= MANE Select | ENSP00000497274.1:p.Leu1347= | |
| ENST00000649459.1:n.387C= | ||
| ENST00000370449.8:c.4039C= | ENSP00000359478.4:p.Leu1347= | |
| NM_000392.4:c.4039C= | NP_000383.1:p.Leu1347= | |
| XM_006717630.2:c.3343C= | XP_006717693.1:p.Leu1115= | |
| XR_945604.1:n.4177-8C= | ||
| XR_945605.1:n.4103C= | ||
| NM_000392.5:c.4039C= MANE Select | NP_000383.2:p.Leu1347= | |
| XM_006717630.3:c.3343C= | XP_006717693.1:p.Leu1115= | |
| XR_945604.3:n.4231-8C= | ||
| XR_945605.3:n.4155C= |