Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893244C>T , CM000664.2:g.218893244C>T | GRCh38 |
| NC_000002.11:g.219757966C>T , CM000664.1:g.219757966C>T | GRCh37 |
| NC_000002.10:g.219466210C>T | NCBI36 |
| NG_012179.1:g.17712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1227C>T MANE Select | ENSP00000258411.3:p.Ile409= | |
| ENST00000258411.7:c.1227C>T | ENSP00000258411.3:p.Ile409= | |
| ENST00000489887.1:n.24C>T | ||
| NM_025216.2:c.1227C>T | NP_079492.2:p.Ile409= | |
| XM_011511928.1:c.1176C>T | XP_011510230.1:p.Ile392= | |
| XM_011511929.1:c.1131C>T | XP_011510231.1:p.Ile377= | |
| XM_011511930.1:c.847C>T | XP_011510232.1:p.His283Tyr | |
| XM_011511929.2:c.1131C>T | XP_011510231.1:p.Ile377= | |
| NM_025216.3:c.1227C>T MANE Select | NP_079492.2:p.Ile409= |