Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177434403A= , CM000666.2:g.177434403A= | GRCh38 |
| NC_000004.11:g.178355557A= , CM000666.1:g.178355557A= | GRCh37 |
| NC_000004.10:g.178592551A= | NCBI36 |
| NG_011845.2:g.13101T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.785T= MANE Select | ENSP00000264595.2:p.Ile262= | |
| ENST00000264595.6:c.785T= | ENSP00000264595.2:p.Ile262= | |
| ENST00000502310.5:c.356T= | ENSP00000423798.1:p.Ile119= | |
| ENST00000506853.5:n.743T= | ||
| NM_000027.3:c.785T= | NP_000018.2:p.Ile262= | |
| NM_001171988.1:c.755T= | NP_001165459.1:p.Ile252= | |
| NR_033655.1:n.837T= | ||
| XM_006714123.2:c.*79T= | XP_006714186.1:n.*79T= | |
| XR_001741155.2:n.857T= | ||
| NM_000027.4:c.785T= MANE Select | NP_000018.2:p.Ile262= | |
| NM_001171988.2:c.755T= | NP_001165459.1:p.Ile252= | |
| NR_033655.2:n.771T= |