Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053111G>C , CM000664.2:g.223053111G>C | GRCh38 |
| NC_000002.11:g.223917829G>C , CM000664.1:g.223917829G>C | GRCh37 |
| NC_000002.10:g.223626073G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.281G>C MANE Select | ENSP00000281830.5:p.Arg94Thr | |
| ENST00000281830.3:c.434G>C | ENSP00000281830.4:p.Arg145Thr | |
| ENST00000488477.2:n.75+837G>C | ||
| NM_080671.3:c.434G>C | NP_542402.3:p.Arg145Thr | |
| NM_080671.4:c.281G>C MANE Select | NP_542402.4:p.Arg94Thr |