Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845687T>A , CM000672.2:g.99845687T>A | GRCh38 |
| NC_000010.10:g.101605444T>A , CM000672.1:g.101605444T>A | GRCh37 |
| NC_000010.9:g.101595434T>A | NCBI36 |
| NG_011798.1:g.67982T>A | |
| NG_011798.2:g.68090T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4051T>A MANE Select | ENSP00000497274.1:p.Leu1351Ile | |
| ENST00000649459.1:n.399T>A | ||
| ENST00000370449.8:c.4051T>A | ENSP00000359478.4:p.Leu1351Ile | |
| NM_000392.4:c.4051T>A | NP_000383.1:p.Leu1351Ile | |
| XM_006717630.2:c.3355T>A | XP_006717693.1:p.Leu1119Ile | |
| XR_945604.1:n.4181T>A | ||
| XR_945605.1:n.4115T>A | ||
| NM_000392.5:c.4051T>A MANE Select | NP_000383.2:p.Leu1351Ile | |
| XM_006717630.3:c.3355T>A | XP_006717693.1:p.Leu1119Ile | |
| XR_945604.3:n.4235T>A | ||
| XR_945605.3:n.4167T>A |