Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842716G>C , CM000673.2:g.102842716G>C | GRCh38 |
| NC_000011.9:g.102713447G>C , CM000673.1:g.102713447G>C | GRCh37 |
| NC_000011.8:g.102218657G>C | NCBI36 |
| NG_012100.1:g.5896C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.306C>G MANE Select | ENSP00000299855.5:p.Thr102= | |
| ENST00000299855.9:c.306C>G | ENSP00000299855.5:p.Thr102= | |
| ENST00000524478.1:c.*148C>G | ENSP00000435255.1:n.*148C>G | |
| NM_002422.3:c.306C>G | NP_002413.1:p.Thr102= | |
| NM_002422.4:c.306C>G | NP_002413.1:p.Thr102= | |
| NM_002422.5:c.306C>G MANE Select | NP_002413.1:p.Thr102= |