Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893192G>T , CM000664.2:g.218893192G>T | GRCh38 |
| NC_000002.11:g.219757914G>T , CM000664.1:g.219757914G>T | GRCh37 |
| NC_000002.10:g.219466158G>T | NCBI36 |
| NG_012179.1:g.17660G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1175G>T MANE Select | ENSP00000258411.3:p.Cys392Phe | |
| ENST00000258411.7:c.1175G>T | ENSP00000258411.3:p.Cys392Phe | |
| NM_025216.2:c.1175G>T | NP_079492.2:p.Cys392Phe | |
| XM_011511928.1:c.1124G>T | XP_011510230.1:p.Cys375Phe | |
| XM_011511929.1:c.1079G>T | XP_011510231.1:p.Cys360Phe | |
| XM_011511930.1:c.795G>T | XP_011510232.1:p.Leu265= | |
| XM_011511929.2:c.1079G>T | XP_011510231.1:p.Cys360Phe | |
| NM_025216.3:c.1175G>T MANE Select | NP_079492.2:p.Cys392Phe |