Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197100A= , CM000666.2:g.186197100A= | GRCh38 |
| NC_000004.11:g.187118254A= , CM000666.1:g.187118254A= | GRCh37 |
| NC_000004.10:g.187355248A= | NCBI36 |
| NG_007965.1:g.10581A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.574A= MANE Select | ENSP00000368079.4:p.Ile192= | |
| ENST00000378802.4:c.574A= | ENSP00000368079.4:p.Ile192= | |
| ENST00000507209.5:n.1013A= | ||
| NM_207352.3:c.574A= | NP_997235.3:p.Ile192= | |
| XM_005262935.2:c.574A= | XP_005262992.1:p.Ile192= | |
| XM_006714184.2:c.178A= | XP_006714247.1:p.Ile60= | |
| XM_005262935.4:c.574A= | XP_005262992.1:p.Ile192= | |
| XM_017008037.1:c.178A= | XP_016863526.1:p.Ile60= | |
| NM_207352.4:c.574A= MANE Select | NP_997235.3:p.Ile192= |