Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40400281T>C , CM000679.2:g.40400281T>C | GRCh38 |
| NC_000017.10:g.38556533T>C , CM000679.1:g.38556533T>C | GRCh37 |
| NC_000017.9:g.35810059T>C | NCBI36 |
| NG_027678.1:g.22670A>G | |
| NG_027678.2:g.22670A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001067.4:c.2928A>G MANE Select | NP_001058.2:p.Lys976= |
| ENST00000423485.6:c.2928A>G MANE Select | ENSP00000411532.1:p.Lys976= |
| NM_001067.3:c.2928A>G | NP_001058.2:p.Lys976= |
| ENST00000423485.5:c.2928A>G | ENSP00000411532.1:p.Lys976= |
| XM_005257632.1:c.2892A>G | XP_005257689.1:p.Lys964= |
| XM_011525165.1:c.2928A>G | XP_011523467.1:p.Lys976= |
| XM_011525165.2:c.2928A>G | XP_011523467.1:p.Lys976= |