Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842896G>A , CM000673.2:g.102842896G>A | GRCh38 |
| NC_000011.9:g.102713627G>A , CM000673.1:g.102713627G>A | GRCh37 |
| NC_000011.8:g.102218837G>A | NCBI36 |
| NG_012100.1:g.5716C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.126C>T MANE Select | ENSP00000299855.5:p.Tyr42= | |
| ENST00000299855.9:c.126C>T | ENSP00000299855.5:p.Tyr42= | |
| ENST00000524478.1:c.97C>T | ENSP00000435255.1:p.Arg33Ter | |
| NM_002422.3:c.126C>T | NP_002413.1:p.Tyr42= | |
| NM_002422.4:c.126C>T | NP_002413.1:p.Tyr42= | |
| NM_002422.5:c.126C>T MANE Select | NP_002413.1:p.Tyr42= |