Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842693C>A , CM000673.2:g.102842693C>A | GRCh38 |
| NC_000011.9:g.102713424C>A , CM000673.1:g.102713424C>A | GRCh37 |
| NC_000011.8:g.102218634C>A | NCBI36 |
| NG_012100.1:g.5919G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.329G>T MANE Select | ENSP00000299855.5:p.Arg110Met | |
| ENST00000299855.9:c.329G>T | ENSP00000299855.5:p.Arg110Met | |
| ENST00000524478.1:c.*171G>T | ENSP00000435255.1:n.*171G>T | |
| NM_002422.3:c.329G>T | NP_002413.1:p.Arg110Met | |
| NM_002422.4:c.329G>T | NP_002413.1:p.Arg110Met | |
| NM_002422.5:c.329G>T MANE Select | NP_002413.1:p.Arg110Met |