Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022643G>T , CM000663.2:g.17022643G>T | GRCh38 |
| NC_000001.10:g.17349138G>T , CM000663.1:g.17349138G>T | GRCh37 |
| NC_000001.9:g.17221725G>T | NCBI36 |
| NG_012340.1:g.36528C>A , LRG_316:g.36528C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.559C>A | ENSP00000481376.2:p.His187Asn | |
| ENST00000491274.6:c.688C>A | ENSP00000480482.2:p.His230Asn | |
| ENST00000375499.8:c.730C>A MANE Select | ENSP00000364649.3:p.His244Asn | |
| ENST00000375499.7:c.730C>A | ENSP00000364649.3:p.His244Asn | |
| ENST00000475049.5:n.155C>A | ||
| ENST00000485092.5:n.394C>A | ||
| ENST00000485515.5:n.664C>A | ||
| NM_003000.2:c.730C>A , LRG_316t1:c.730C>A | NP_002991.2:p.His244Asn | |
| NM_003000.3:c.730C>A MANE Select | NP_002991.2:p.His244Asn |