Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844450C= , CM000672.2:g.99844450C= | GRCh38 |
| NC_000010.10:g.101604207C= , CM000672.1:g.101604207C= | GRCh37 |
| NC_000010.9:g.101594197C= | NCBI36 |
| NG_011798.1:g.66745C= | |
| NG_011798.2:g.66853C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3972C= MANE Select | ENSP00000497274.1:p.Ile1324= | |
| ENST00000649459.1:n.320C= | ||
| ENST00000370449.8:c.3972C= | ENSP00000359478.4:p.Ile1324= | |
| NM_000392.4:c.3972C= | NP_000383.1:p.Ile1324= | |
| XM_006717630.2:c.3276C= | XP_006717693.1:p.Ile1092= | |
| XR_945604.1:n.4161C= | ||
| XR_945605.1:n.4036C= | ||
| NM_000392.5:c.3972C= MANE Select | NP_000383.2:p.Ile1324= | |
| XM_006717630.3:c.3276C= | XP_006717693.1:p.Ile1092= | |
| XR_945604.3:n.4215C= | ||
| XR_945605.3:n.4088C= |