Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124222G>C , CM000664.2:g.208124222G>C | GRCh38 |
| NC_000002.11:g.208988946G>C , CM000664.1:g.208988946G>C | GRCh37 |
| NC_000002.10:g.208697191G>C | NCBI36 |
| NG_008039.1:g.5368C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.142C>G MANE Select | ENSP00000264376.4:p.Gln48Glu | |
| ENST00000264376.4:c.142C>G | ENSP00000264376.4:p.Gln48Glu | |
| NM_006891.3:c.142C>G | NP_008822.2:p.Gln48Glu | |
| NR_038437.1:n.97+4997G>C | ||
| NM_006891.4:c.142C>G MANE Select | NP_008822.2:p.Gln48Glu |