Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124222G>T , CM000664.2:g.208124222G>T | GRCh38 |
| NC_000002.11:g.208988946G>T , CM000664.1:g.208988946G>T | GRCh37 |
| NC_000002.10:g.208697191G>T | NCBI36 |
| NG_008039.1:g.5368C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.142C>A MANE Select | ENSP00000264376.4:p.Gln48Lys | |
| ENST00000264376.4:c.142C>A | ENSP00000264376.4:p.Gln48Lys | |
| NM_006891.3:c.142C>A | NP_008822.2:p.Gln48Lys | |
| NR_038437.1:n.97+4997G>T | ||
| NM_006891.4:c.142C>A MANE Select | NP_008822.2:p.Gln48Lys |