Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124329A>C , CM000664.2:g.208124329A>C | GRCh38 |
| NC_000002.11:g.208989053A>C , CM000664.1:g.208989053A>C | GRCh37 |
| NC_000002.10:g.208697298A>C | NCBI36 |
| NG_008039.1:g.5261T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.35T>G MANE Select | ENSP00000264376.4:p.Phe12Cys | |
| ENST00000264376.4:c.35T>G | ENSP00000264376.4:p.Phe12Cys | |
| NM_006891.3:c.35T>G | NP_008822.2:p.Phe12Cys | |
| NR_038437.1:n.97+5104A>C | ||
| NM_006891.4:c.35T>G MANE Select | NP_008822.2:p.Phe12Cys |