Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116593075G>A , CM000668.2:g.116593075G>A | GRCh38 |
| NC_000006.11:g.116914238G>A , CM000668.1:g.116914238G>A | GRCh37 |
| NC_000006.10:g.117020931G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466444.7:c.706G>A MANE Select | ENSP00000420357.2:p.Asp236Asn | |
| ENST00000466444.6:c.706G>A | ENSP00000420357.2:p.Asp236Asn | |
| ENST00000487832.6:c.418G>A | ENSP00000428778.1:p.Asp140Asn | |
| NM_001007464.2:c.418G>A | NP_001007465.1:p.Asp140Asn | |
| NM_015952.3:c.706G>A | NP_057036.2:p.Asp236Asn | |
| NM_016104.3:c.418G>A | NP_057188.2:p.Asp140Asn | |
| NM_015952.4:c.706G>A MANE Select | NP_057036.2:p.Asp236Asn | |
| NM_001007464.3:c.418G>A | NP_001007465.1:p.Asp140Asn | |
| NM_016104.4:c.418G>A | NP_057188.2:p.Asp140Asn |