Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781923A>C , CM000672.2:g.94781923A>C | GRCh38 |
| NC_000010.10:g.96541680A>C , CM000672.1:g.96541680A>C | GRCh37 |
| NC_000010.9:g.96531670A>C | NCBI36 |
| NG_008384.2:g.24218A>C | |
| NG_008384.3:g.24243A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.745A>C MANE Select | ENSP00000360372.3:p.Lys249Gln | |
| ENST00000645461.1:n.1798A>C | ||
| ENST00000371321.7:c.745A>C | ENSP00000360372.3:p.Lys249Gln | |
| ENST00000464755.1:c.1508A>C | ENSP00000483243.1:n.1508A>C | |
| NM_000769.2:c.745A>C | NP_000760.1:p.Lys249Gln | |
| NM_000769.4:c.745A>C MANE Select | NP_000760.1:p.Lys249Gln |