Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845694C= , CM000672.2:g.99845694C= | GRCh38 |
| NC_000010.10:g.101605451C= , CM000672.1:g.101605451C= | GRCh37 |
| NC_000010.9:g.101595441C= | NCBI36 |
| NG_011798.1:g.67989C= | |
| NG_011798.2:g.68097C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4058C= MANE Select | ENSP00000497274.1:p.Ala1353= | |
| ENST00000649459.1:n.406C= | ||
| ENST00000370449.8:c.4058C= | ENSP00000359478.4:p.Ala1353= | |
| NM_000392.4:c.4058C= | NP_000383.1:p.Ala1353= | |
| XM_006717630.2:c.3362C= | XP_006717693.1:p.Ala1121= | |
| XR_945604.1:n.4188C= | ||
| XR_945605.1:n.4122C= | ||
| NM_000392.5:c.4058C= MANE Select | NP_000383.2:p.Ala1353= | |
| XM_006717630.3:c.3362C= | XP_006717693.1:p.Ala1121= | |
| XR_945604.3:n.4242C= | ||
| XR_945605.3:n.4174C= |