Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675817A>C , CM000685.2:g.38675817A>C | GRCh38 |
| NC_000023.10:g.38535071A>C , CM000685.1:g.38535071A>C | GRCh37 |
| NC_000023.9:g.38420015A>C | NCBI36 |
| NG_009160.1:g.119341A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.554A>C MANE Select | ENSP00000367743.2:p.Asp185Ala | |
| ENST00000286824.6:c.605A>C | ENSP00000286824.6:p.Asp202Ala | |
| ENST00000378482.6:c.554A>C | ENSP00000367743.2:p.Asp185Ala | |
| ENST00000419600.3:n.498A>C | ||
| ENST00000465127.1:c.644A>C | ENSP00000417050.1:p.Asp215Ala | |
| ENST00000471410.5:c.*580A>C | ENSP00000419290.1:n.*580A>C | |
| ENST00000475216.5:c.*547A>C | ENSP00000418586.1:n.*547A>C | |
| NM_004615.3:c.554A>C | NP_004606.2:p.Asp185Ala | |
| NM_004615.4:c.554A>C MANE Select | NP_004606.2:p.Asp185Ala |