Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842688T>G , CM000673.2:g.102842688T>G | GRCh38 |
| NC_000011.9:g.102713419T>G , CM000673.1:g.102713419T>G | GRCh37 |
| NC_000011.8:g.102218629T>G | NCBI36 |
| NG_012100.1:g.5924A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.334A>C MANE Select | ENSP00000299855.5:p.Thr112Pro | |
| ENST00000299855.9:c.334A>C | ENSP00000299855.5:p.Thr112Pro | |
| ENST00000524478.1:c.*176A>C | ENSP00000435255.1:n.*176A>C | |
| NM_002422.3:c.334A>C | NP_002413.1:p.Thr112Pro | |
| NM_002422.4:c.334A>C | NP_002413.1:p.Thr112Pro | |
| NM_002422.5:c.334A>C MANE Select | NP_002413.1:p.Thr112Pro |