Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866620C>G , CM000679.2:g.40866620C>G | GRCh38 |
| NC_000017.10:g.39022872C>G , CM000679.1:g.39022872C>G | GRCh37 |
| NC_000017.9:g.36276398C>G | NCBI36 |
| NG_008077.1:g.5591G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.567G>C MANE Select | ENSP00000251643.4:p.Lys189Asn | |
| ENST00000647902.1:c.459G>C | ENSP00000497770.1:p.Lys153Asn | |
| ENST00000251643.4:c.567G>C | ENSP00000251643.4:p.Lys189Asn | |
| NM_000223.3:c.567G>C | NP_000214.1:p.Lys189Asn | |
| XR_934754.1:n.1500+15760C>G | ||
| XR_934754.2:n.2008+15760C>G | ||
| NM_000223.4:c.567G>C MANE Select | NP_000214.1:p.Lys189Asn |