Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96897732T>C , CM000668.2:g.96897732T>C | GRCh38 |
| NC_000006.11:g.97345608T>C , CM000668.1:g.97345608T>C | GRCh37 |
| NC_000006.10:g.97452329T>C | NCBI36 |
| NG_013379.1:g.5160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.70A>G MANE Select | ENSP00000358272.4:p.Lys24Glu | |
| ENST00000316149.7:c.70A>G | ENSP00000358272.4:p.Lys24Glu | |
| ENST00000489477.1:n.143A>G | ||
| NM_014165.3:c.70A>G | NP_054884.1:p.Lys24Glu | |
| NM_014165.4:c.70A>G MANE Select | NP_054884.1:p.Lys24Glu |