Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572918T>G , CM000685.2:g.47572918T>G | GRCh38 |
| NC_000023.10:g.47432317T>G , CM000685.1:g.47432317T>G | GRCh37 |
| NC_000023.9:g.47317261T>G | NCBI36 |
| NG_008437.1:g.51940A>C | |
| NG_016339.1:g.16802T>G | |
| NG_016339.2:g.16802T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.2064A>C MANE Select | ENSP00000295987.7:p.Lys688Asn | |
| ENST00000340666.5:c.*16A>C | ENSP00000343206.4:n.*16A>C | |
| ENST00000640721.1:c.114A>C | ENSP00000492857.1:p.Lys38Asn | |
| ENST00000295987.11:c.2064A>C | ENSP00000295987.7:p.Lys688Asn | |
| ENST00000340666.4:c.*16A>C | ENSP00000343206.4:n.*16A>C | |
| NM_006950.3:c.2064A>C MANE Select | NP_008881.2:p.Lys688Asn | |
| NM_133499.2:c.*16A>C | NP_598006.1:n.*16A>C |