Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6718135T>G , CM000681.2:g.6718135T>G | GRCh38 |
| NC_000019.9:g.6718146T>G , CM000681.1:g.6718146T>G | GRCh37 |
| NC_000019.8:g.6669146T>G | NCBI36 |
| NG_009557.1:g.7517A>C , LRG_27:g.7517A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.463A>C MANE Select | NP_000055.2:p.Lys155Gln |
| ENST00000245907.11:c.463A>C MANE Select | ENSP00000245907.4:p.Lys155Gln |
| NM_000064.3:c.463A>C | NP_000055.2:p.Lys155Gln |
| ENST00000245907.10:c.463A>C | ENSP00000245907.4:p.Lys155Gln |
| ENST00000594936.1:n.524A>C | |
| ENST00000594936.2:n.524A>C | |
| ENST00000695652.1:c.340A>C | ENSP00000512083.1:p.Lys114Gln |
| ENST00000695693.1:c.463A>C | ENSP00000512104.1:p.Lys155Gln |