Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630252G= , CM000674.2:g.123630252G= | GRCh38 |
| NC_000012.11:g.124114799G= , CM000674.1:g.124114799G= | GRCh37 |
| NC_000012.10:g.122680752G= | NCBI36 |
| NG_015862.1:g.8525C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424014.7:c.286C= MANE Select | ENSP00000416250.2:p.Arg96= | |
| ENST00000424014.6:c.286C= | ENSP00000416250.2:p.Arg96= | |
| ENST00000452159.6:n.417C= | ||
| ENST00000534960.5:c.333C= | ||
| ENST00000537073.1:c.286C= | ENSP00000444183.1:p.Arg96= | |
| ENST00000539951.5:c.247C= | ENSP00000438060.1:p.Arg83= | |
| ENST00000543940.1:n.405C= | ||
| NM_001414.3:c.286C= | NP_001405.1:p.Arg96= | |
| NM_001414.4:c.286C= MANE Select | NP_001405.1:p.Arg96= |