Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714018C>A , CM000681.2:g.6714018C>A | GRCh38 |
| NC_000019.9:g.6714029C>A , CM000681.1:g.6714029C>A | GRCh37 |
| NC_000019.8:g.6665029C>A | NCBI36 |
| NG_009557.1:g.11634G>T , LRG_27:g.11634G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.624G>T | ENSP00000512083.1:p.Lys208Asn | |
| ENST00000245907.11:c.747G>T MANE Select | ENSP00000245907.4:p.Lys249Asn | |
| ENST00000245907.10:c.747G>T | ENSP00000245907.4:p.Lys249Asn | |
| ENST00000595577.1:n.251G>T | ||
| NM_000064.3:c.747G>T | NP_000055.2:p.Lys249Asn | |
| NM_000064.4:c.747G>T MANE Select | NP_000055.2:p.Lys249Asn |