Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842454A>G , CM000673.2:g.102842454A>G | GRCh38 |
| NC_000011.9:g.102713185A>G , CM000673.1:g.102713185A>G | GRCh37 |
| NC_000011.8:g.102218395A>G | NCBI36 |
| NG_012100.1:g.6158T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.476T>C MANE Select | ENSP00000299855.5:p.Ile159Thr | |
| ENST00000299855.9:c.476T>C | ENSP00000299855.5:p.Ile159Thr | |
| ENST00000524478.1:c.*318T>C | ENSP00000435255.1:n.*318T>C | |
| NM_002422.3:c.476T>C | NP_002413.1:p.Ile159Thr | |
| NM_002422.4:c.476T>C | NP_002413.1:p.Ile159Thr | |
| NM_002422.5:c.476T>C MANE Select | NP_002413.1:p.Ile159Thr |