Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845676T= , CM000672.2:g.99845676T= | GRCh38 |
| NC_000010.10:g.101605433T= , CM000672.1:g.101605433T= | GRCh37 |
| NC_000010.9:g.101595423T= | NCBI36 |
| NG_011798.1:g.67971T= | |
| NG_011798.2:g.68079T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4040T= MANE Select | ENSP00000497274.1:p.Leu1347= | |
| ENST00000649459.1:n.388T= | ||
| ENST00000370449.8:c.4040T= | ENSP00000359478.4:p.Leu1347= | |
| NM_000392.4:c.4040T= | NP_000383.1:p.Leu1347= | |
| XM_006717630.2:c.3344T= | XP_006717693.1:p.Leu1115= | |
| XR_945604.1:n.4177-7T= | ||
| XR_945605.1:n.4104T= | ||
| NM_000392.5:c.4040T= MANE Select | NP_000383.2:p.Leu1347= | |
| XM_006717630.3:c.3344T= | XP_006717693.1:p.Leu1115= | |
| XR_945604.3:n.4231-7T= | ||
| XR_945605.3:n.4156T= |