Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208898T= , CM000666.2:g.186208898T= | GRCh38 |
| NC_000004.11:g.187130052T= , CM000666.1:g.187130052T= | GRCh37 |
| NC_000004.10:g.187367046T= | NCBI36 |
| NG_007965.1:g.22379T= | |
| NG_012095.2:g.4920T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1124T= MANE Select | ENSP00000368079.4:p.Leu375= | |
| ENST00000378802.4:c.1124T= | ENSP00000368079.4:p.Leu375= | |
| ENST00000502665.1:n.359T= | ||
| ENST00000507209.5:n.5822T= | ||
| ENST00000513354.5:n.214T= | ||
| NM_207352.3:c.1124T= | NP_997235.3:p.Leu375= | |
| XM_005262935.2:c.1124T= | XP_005262992.1:p.Leu375= | |
| XM_006714184.2:c.728T= | XP_006714247.1:p.Leu243= | |
| XM_005262935.4:c.1124T= | XP_005262992.1:p.Leu375= | |
| XM_017008037.1:c.728T= | XP_016863526.1:p.Leu243= | |
| NM_207352.4:c.1124T= MANE Select | NP_997235.3:p.Leu375= |