ClinVar Variation:
COSMIC:
COSM4157142
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70528589 (EAS)
Genomes Max Group AF
0.6792071 (EAS)
Exomes Max Group AF
0.70688861 (EAS)
Revel Score:
ENST00000460779
0.033
ENST00000467632
0.033
ENST00000383673 (MANE Select)
0.033
ENST00000281274
0.033
ENST00000295881
0.033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114171968C>T , CM000665.2:g.114171968C>T | GRCh38 |
| NC_000003.11:g.113890815C>T , CM000665.1:g.113890815C>T | GRCh37 |
| NC_000003.10:g.115373505C>T | NCBI36 |
| NG_008842.2:g.32440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.25G>A | ENSP00000513607.1:p.Gly9Ser | |
| ENST00000383673.5:c.25G>A MANE Select | ENSP00000373169.2:p.Gly9Ser | |
| ENST00000295881.9:c.25G>A | ENSP00000295881.6:p.Gly9Ser | |
| ENST00000383673.4:c.25G>A | ENSP00000373169.2:p.Gly9Ser | |
| ENST00000460779.5:c.25G>A | ENSP00000419402.1:p.Gly9Ser | |
| ENST00000467632.5:c.25G>A | ENSP00000420662.1:p.Gly9Ser | |
| NM_000796.5:c.25G>A | NP_000787.2:p.Gly9Ser | |
| NM_001282563.2:c.25G>A | NP_001269492.1:p.Gly9Ser | |
| NM_001290809.1:c.25G>A | NP_001277738.1:p.Gly9Ser | |
| NM_033663.5:c.25G>A | NP_387512.3:p.Gly9Ser | |
| XM_011512510.1:c.25G>A | XP_011510812.1:p.Gly9Ser | |
| XM_011512511.1:c.25G>A | XP_011510813.1:p.Gly9Ser | |
| XM_011512512.1:c.25G>A | XP_011510814.1:p.Gly9Ser | |
| XM_017005829.1:c.25G>A | XP_016861318.1:p.Gly9Ser | |
| NM_000796.6:c.25G>A MANE Select | NP_000787.2:p.Gly9Ser | |
| NM_033663.6:c.25G>A | NP_387512.3:p.Gly9Ser |