Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930671C>G , CM000663.2:g.15930671C>G | GRCh38 |
| NC_000001.10:g.16257166C>G , CM000663.1:g.16257166C>G | GRCh37 |
| NC_000001.9:g.16129753C>G | NCBI36 |
| NG_050663.1:g.87808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5282C>G | ENSP00000388021.2:n.*5282C>G | |
| ENST00000704274.1:c.28C>G | ||
| ENST00000375759.8:c.4431C>G MANE Select | ENSP00000364912.3:p.Asn1477Lys | |
| ENST00000375759.7:c.4431C>G | ENSP00000364912.3:p.Asn1477Lys | |
| NM_015001.2:c.4431C>G | NP_055816.2:p.Asn1477Lys | |
| NM_015001.3:c.4431C>G MANE Select | NP_055816.2:p.Asn1477Lys |