COSMIC:
gnomAD v4:
Revel Score:
ENST00000553106 (MANE Select)
0.930
ENST00000307000
0.930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844347C>T , CM000674.2:g.102844347C>T | GRCh38 |
| NC_000012.11:g.103238125C>T , CM000674.1:g.103238125C>T | GRCh37 |
| NC_000012.10:g.101762255C>T | NCBI36 |
| NG_008690.1:g.78256G>A | |
| NG_008690.2:g.119064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1054G>A MANE Select | ENSP00000448059.1:p.Gly352Ser | |
| ENST00000307000.7:c.1039G>A | ENSP00000303500.2:p.Gly347Ser | |
| ENST00000549247.6:n.813G>A | ||
| ENST00000551114.2:n.716G>A | ||
| ENST00000553106.5:c.1054G>A | ENSP00000448059.1:p.Gly352Ser | |
| ENST00000635477.1:c.158G>A | ||
| ENST00000635528.1:n.569G>A | ||
| NM_000277.1:c.1054G>A | NP_000268.1:p.Gly352Ser | |
| XM_011538422.1:c.997G>A | XP_011536724.1:p.Gly333Ser | |
| NM_000277.2:c.1054G>A | NP_000268.1:p.Gly352Ser | |
| NM_001354304.1:c.1054G>A | NP_001341233.1:p.Gly352Ser | |
| NM_000277.3:c.1054G>A MANE Select | NP_000268.1:p.Gly352Ser | |
| NM_001354304.2:c.1054G>A | NP_001341233.1:p.Gly352Ser |