Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837187T>C , CM000670.2:g.117837187T>C | GRCh38 |
| NC_000008.10:g.118849426T>C , CM000670.1:g.118849426T>C | GRCh37 |
| NC_000008.9:g.118918607T>C | NCBI36 |
| NG_007455.2:g.279633A>G , LRG_493:g.279633A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.977A>G MANE Select | NP_000118.2:p.Glu326Gly |
| ENST00000378204.7:c.977A>G MANE Select | ENSP00000367446.3:p.Glu326Gly |
| NM_000127.2:c.977A>G , LRG_493t1:c.977A>G | NP_000118.2:p.Glu326Gly |
| ENST00000378204.6:c.977A>G | ENSP00000367446.2:p.Glu326Gly |
| ENST00000436216.1:c.345A>G | |
| ENST00000436216.2:c.345A>G | |
| ENST00000437196.1:c.74-1636A>G | ENSP00000407299.1:n.74-1636A>G |
| ENST00000684189.1:n.444A>G |