Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176750A>C , CM000678.2:g.176750A>C | GRCh38 |
| NC_000016.9:g.226749A>C , CM000678.1:g.226749A>C | GRCh37 |
| NC_000016.8:g.166749A>C | NCBI36 |
| NG_000006.1:g.37613A>C | |
| NG_059186.1:g.5100A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.34A>C MANE Select | ENSP00000322421.5:p.Lys12Gln | |
| ENST00000397797.1:c.-14A>C | ENSP00000380899.1:n.-14A>C | |
| ENST00000472694.1:n.53A>C | ||
| ENST00000487791.1:n.3A>C | ||
| NM_000558.4:c.34A>C | NP_000549.1:p.Lys12Gln | |
| NM_000558.5:c.34A>C MANE Select | NP_000549.1:p.Lys12Gln |