Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61152868A>G , CM000667.2:g.61152868A>G | GRCh38 |
| NC_000005.9:g.60448695A>G , CM000667.1:g.60448695A>G | GRCh37 |
| NC_000005.8:g.60484452A>G | NCBI36 |
| NG_008978.1:g.212740A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174889.5:c.423A>G MANE Select | NP_777549.1:p.Glu141= |
| ENST00000296597.10:c.423A>G MANE Select | ENSP00000296597.5:p.Glu141= |
| NM_174889.4:c.423A>G | NP_777549.1:p.Glu141= |
| ENST00000296597.9:c.423A>G | ENSP00000296597.5:p.Glu141= |
| ENST00000502658.1:c.303A>G | |
| ENST00000511107.1:c.*196A>G | ENSP00000423377.1:n.*196A>G |
| ENST00000512623.1:n.548A>G | |
| ENST00000677756.1:c.*439A>G | ENSP00000503642.1:n.*439A>G |
| ENST00000678452.1:c.*253A>G | ENSP00000504248.1:n.*253A>G |