Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615580G>C , CM000668.2:g.151615580G>C | GRCh38 |
| NC_000006.11:g.151936715G>C , CM000668.1:g.151936715G>C | GRCh37 |
| NC_000006.10:g.151978408G>C | NCBI36 |
| NG_021198.1:g.126541G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1848G>C MANE Select | ENSP00000239374.6:p.Lys616Asn | |
| ENST00000239374.7:c.1848G>C | ENSP00000239374.6:p.Lys616Asn | |
| NM_025059.3:c.1848G>C | NP_079335.2:p.Lys616Asn | |
| XM_011536147.1:c.1866G>C | XP_011534449.1:p.Lys622Asn | |
| XM_011536148.1:c.1665G>C | XP_011534450.1:p.Lys555Asn | |
| XM_011536147.2:c.1866G>C | XP_011534449.1:p.Lys622Asn | |
| XM_011536148.2:c.1665G>C | XP_011534450.1:p.Lys555Asn | |
| XR_001743865.1:n.129+1141C>G | ||
| NM_025059.4:c.1848G>C MANE Select | NP_079335.2:p.Lys616Asn |