Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845678T>C , CM000672.2:g.99845678T>C | GRCh38 |
| NC_000010.10:g.101605435T>C , CM000672.1:g.101605435T>C | GRCh37 |
| NC_000010.9:g.101595425T>C | NCBI36 |
| NG_011798.1:g.67973T>C | |
| NG_011798.2:g.68081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4042T>C MANE Select | ENSP00000497274.1:p.Phe1348Leu | |
| ENST00000649459.1:n.390T>C | ||
| ENST00000370449.8:c.4042T>C | ENSP00000359478.4:p.Phe1348Leu | |
| NM_000392.4:c.4042T>C | NP_000383.1:p.Phe1348Leu | |
| XM_006717630.2:c.3346T>C | XP_006717693.1:p.Phe1116Leu | |
| XR_945604.1:n.4177-5T>C | ||
| XR_945605.1:n.4106T>C | ||
| NM_000392.5:c.4042T>C MANE Select | NP_000383.2:p.Phe1348Leu | |
| XM_006717630.3:c.3346T>C | XP_006717693.1:p.Phe1116Leu | |
| XR_945604.3:n.4231-5T>C | ||
| XR_945605.3:n.4158T>C |