Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162276901T>C , CM000664.2:g.162276901T>C | GRCh38 |
| NC_000002.11:g.163133411T>C , CM000664.1:g.163133411T>C | GRCh37 |
| NC_000002.10:g.162841657T>C | NCBI36 |
| NG_011495.1:g.46629A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2090A>G MANE Select | NP_071451.2:p.Glu697Gly |
| ENST00000649979.2:c.2090A>G MANE Select | ENSP00000497271.1:p.Glu697Gly |
| NM_022168.3:c.2090A>G | NP_071451.2:p.Glu697Gly |
| ENST00000263642.2:c.2090A>G | ENSP00000263642.2:p.Glu697Gly |
| ENST00000648433.1:c.1973A>G | ENSP00000496816.1:p.Glu658Gly |
| ENST00000649554.1:n.1700A>G | |
| ENST00000679938.1:c.1778A>G | ENSP00000505518.1:p.Glu593Gly |
| ENST00000697291.1:c.*1687A>G | ENSP00000513228.1:n.*1687A>G |
| XM_011511628.1:c.1373A>G | XP_011509930.1:p.Glu458Gly |