Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117137977T>G , CM000672.2:g.117137977T>G | GRCh38 |
| NC_000010.10:g.118897488T>G , CM000672.1:g.118897488T>G | GRCh37 |
| NC_000010.9:g.118887478T>G | NCBI36 |
| NG_012317.1:g.5325A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001112704.2:c.80A>C MANE Select | NP_001106175.1:p.Lys27Thr |
| ENST00000369206.6:c.80A>C MANE Select | ENSP00000358207.4:p.Lys27Thr |
| NM_001112704.1:c.80A>C | NP_001106175.1:p.Lys27Thr |
| NM_199131.2:c.80A>C | NP_954582.1:p.Lys27Thr |
| NM_199131.3:c.80A>C | NP_954582.1:p.Lys27Thr |
| ENST00000277905.6:c.80A>C | ENSP00000277905.2:p.Lys27Thr |
| ENST00000369206.5:c.80A>C | ENSP00000358207.4:p.Lys27Thr |