Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805011C>A , CM000685.2:g.37805011C>A | GRCh38 |
| NC_000023.10:g.37664264C>A , CM000685.1:g.37664264C>A | GRCh37 |
| NC_000023.9:g.37549208C>A | NCBI36 |
| NG_009065.1:g.29995C>A , LRG_53:g.29995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*666C>A | ENSP00000512461.1:n.*666C>A | |
| ENST00000696171.1:c.1061C>A | ENSP00000512462.1:p.Ala354Glu | |
| ENST00000378588.5:c.1157C>A MANE Select | ENSP00000367851.4:p.Ala386Glu | |
| ENST00000378588.4:c.1157C>A | ENSP00000367851.4:p.Ala386Glu | |
| ENST00000465127.1:c.171+379011C>A | ENSP00000417050.1:n.171+379011C>A | |
| NM_000397.3:c.1157C>A , LRG_53t1:c.1157C>A | NP_000388.2:p.Ala386Glu | |
| XM_011543890.1:c.851C>A | XP_011542192.1:p.Ala284Glu | |
| NM_000397.4:c.1157C>A MANE Select | NP_000388.2:p.Ala386Glu |