Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246311C= , CM000674.2:g.65246311C= | GRCh38 |
| NC_000012.11:g.65640091C= , CM000674.1:g.65640091C= | GRCh37 |
| NC_000012.10:g.63926358C= | NCBI36 |
| NG_016210.1:g.81741C= | |
| NG_016210.2:g.81741C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2722C= MANE Select | ENSP00000308369.2:p.Gln908= | |
| ENST00000308330.2:c.2722C= | ENSP00000308369.2:p.Gln908= | |
| ENST00000539442.1:n.704C= | ||
| ENST00000545026.1:n.540C= | ||
| NM_001167614.1:c.2719C= | NP_001161086.1:p.Gln907= | |
| NM_014319.4:c.2722C= | NP_055134.2:p.Gln908= | |
| NM_014319.5:c.2722C= MANE Select | NP_055134.2:p.Gln908= | |
| NM_001167614.2:c.2719C= | NP_001161086.1:p.Gln907= |