Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96896787T>C , CM000668.2:g.96896787T>C | GRCh38 |
| NC_000006.11:g.97344663T>C , CM000668.1:g.97344663T>C | GRCh37 |
| NC_000006.10:g.97451384T>C | NCBI36 |
| NG_013379.1:g.6105A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014165.4:c.197A>G MANE Select | NP_054884.1:p.Lys66Arg |
| ENST00000316149.8:c.197A>G MANE Select | ENSP00000358272.4:p.Lys66Arg |
| NM_014165.3:c.197A>G | NP_054884.1:p.Lys66Arg |
| ENST00000316149.7:c.197A>G | ENSP00000358272.4:p.Lys66Arg |
| ENST00000478382.1:n.132A>G | |
| ENST00000489477.1:n.270A>G |