Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128263555G>C , CM000667.2:g.128263555G>C | GRCh38 |
| NC_000005.9:g.127599247G>C , CM000667.1:g.127599247G>C | GRCh37 |
| NC_000005.8:g.127627146G>C | NCBI36 |
| NG_008750.1:g.279489C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.8062C>G MANE Select | NP_001990.2:p.Gln2688Glu |
| ENST00000262464.9:c.8062C>G MANE Select | ENSP00000262464.4:p.Gln2688Glu |
| NM_001999.3:c.8062C>G | NP_001990.2:p.Gln2688Glu |
| ENST00000262464.8:c.8062C>G | ENSP00000262464.4:p.Gln2688Glu |
| ENST00000508053.5:c.8062C>G | ENSP00000424571.1:p.Gln2688Glu |
| ENST00000619499.4:c.8059C>G | ENSP00000482132.1:p.Gln2687Glu |
| ENST00000703782.1:n.177C>G | |
| XM_017009228.2:c.7909C>G | XP_016864717.1:p.Gln2637Glu |