Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974661G= , CM000681.2:g.48974661G= | GRCh38 |
| NC_000019.9:g.49477918G= , CM000681.1:g.49477918G= | GRCh37 |
| NC_000019.8:g.54169730G= | NCBI36 |
| NG_012923.1:g.23693C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1381C= MANE Select | ENSP00000317904.3:p.Arg461= | |
| ENST00000263276.6:c.1189C= | ENSP00000263276.6:p.Arg397= | |
| ENST00000323798.7:c.1381C= | ENSP00000317904.3:p.Arg461= | |
| ENST00000472004.5:n.136C= | ||
| ENST00000496048.1:n.288C= | ||
| NM_001161587.1:c.1189C= | NP_001155059.1:p.Arg397= | |
| NM_002103.4:c.1381C= | NP_002094.2:p.Arg461= | |
| NR_027763.1:n.1440C= | ||
| NM_002103.5:c.1381C= MANE Select | NP_002094.2:p.Arg461= | |
| NM_001161587.2:c.1189C= | NP_001155059.1:p.Arg397= | |
| NR_027763.2:n.1396C= |