Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177018A>C , CM000678.2:g.177018A>C | GRCh38 |
| NC_000016.9:g.227017A>C , CM000678.1:g.227017A>C | GRCh37 |
| NC_000016.8:g.167017A>C | NCBI36 |
| NG_000006.1:g.37881A>C | |
| NG_059186.1:g.5368A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.185A>C MANE Select | NP_000549.1:p.Lys62Thr |
| ENST00000320868.9:c.185A>C MANE Select | ENSP00000322421.5:p.Lys62Thr |
| NM_000558.4:c.185A>C | NP_000549.1:p.Lys62Thr |
| ENST00000397797.1:c.89A>C | ENSP00000380899.1:p.Lys30Thr |
| ENST00000472694.1:n.321A>C | |
| ENST00000487791.1:n.154A>C |