Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659376T>A , CM000685.2:g.136659376T>A | GRCh38 |
| NC_000023.10:g.135741535T>A , CM000685.1:g.135741535T>A | GRCh37 |
| NC_000023.9:g.135569201T>A | NCBI36 |
| NG_007280.1:g.16200T>A , LRG_141:g.16200T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*365T>A | ENSP00000512122.1:n.*365T>A | |
| ENST00000695725.1:c.*302T>A | ENSP00000512123.1:n.*302T>A | |
| ENST00000695726.1:n.2715T>A | ||
| ENST00000695729.1:n.3550T>A | ||
| ENST00000370629.7:c.747T>A MANE Select | ENSP00000359663.2:p.His249Gln | |
| ENST00000370628.2:c.684T>A | ENSP00000359662.2:p.His228Gln | |
| ENST00000370629.6:c.747T>A | ENSP00000359663.2:p.His249Gln | |
| NM_000074.2:c.747T>A , LRG_141t1:c.747T>A | NP_000065.1:p.His249Gln | |
| NM_000074.3:c.747T>A MANE Select | NP_000065.1:p.His249Gln |