Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675860G>T , CM000685.2:g.38675860G>T | GRCh38 |
| NC_000023.10:g.38535114G>T , CM000685.1:g.38535114G>T | GRCh37 |
| NC_000023.9:g.38420058G>T | NCBI36 |
| NG_009160.1:g.119384G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.597G>T MANE Select | ENSP00000367743.2:p.Lys199Asn | |
| ENST00000286824.6:c.648G>T | ENSP00000286824.6:p.Lys216Asn | |
| ENST00000378482.6:c.597G>T | ENSP00000367743.2:p.Lys199Asn | |
| ENST00000419600.3:n.541G>T | ||
| ENST00000465127.1:c.687G>T | ENSP00000417050.1:p.Lys229Asn | |
| ENST00000471410.5:c.*623G>T | ENSP00000419290.1:n.*623G>T | |
| ENST00000475216.5:c.*590G>T | ENSP00000418586.1:n.*590G>T | |
| NM_004615.3:c.597G>T | NP_004606.2:p.Lys199Asn | |
| NM_004615.4:c.597G>T MANE Select | NP_004606.2:p.Lys199Asn |