COSMIC:
COSM149631 (not active)
COSM3760668 (not active)
Revel Score:
ENST00000344938
0.099
ENST00000310917
0.099
ENST00000344408 (MANE Select)
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34717384 (EAS)
Genomes Max Group AF
0.37149732 (EAS)
Exomes Max Group AF
0.34251343 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5689175T>C , CM000666.2:g.5689175T>C | GRCh38 |
| NC_000004.11:g.5690902T>C , CM000666.1:g.5690902T>C | GRCh37 |
| NC_000004.10:g.5741803T>C | NCBI36 |
| NG_015821.1:g.25374A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.688A>G MANE Select | ENSP00000342144.5:p.Ser230Gly | |
| ENST00000310917.6:c.448A>G | ENSP00000311683.2:p.Ser150Gly | |
| ENST00000344408.9:c.688A>G | ENSP00000342144.5:p.Ser230Gly | |
| ENST00000475313.5:c.448A>G | ENSP00000431981.1:p.Ser150Gly | |
| ENST00000509670.1:c.448A>G | ENSP00000423876.1:p.Ser150Gly | |
| NM_001166136.1:c.448A>G | NP_001159608.1:p.Ser150Gly | |
| NM_147127.4:c.688A>G | NP_667338.3:p.Ser230Gly | |
| XM_011513392.1:c.688A>G | XP_011511694.1:p.Ser230Gly | |
| XM_011513393.1:c.688A>G | XP_011511695.1:p.Ser230Gly | |
| XM_011513394.1:c.448A>G | XP_011511696.1:p.Ser150Gly | |
| XM_017007736.1:c.448A>G | XP_016863225.1:p.Ser150Gly | |
| XM_017007737.1:c.448A>G | XP_016863226.1:p.Ser150Gly | |
| XM_017007738.1:c.688A>G | XP_016863227.1:p.Ser230Gly | |
| XM_017007739.1:c.-985A>G | XP_016863228.1:n.-985A>G | |
| XM_024453893.1:c.-1089A>G | XP_024309661.1:n.-1089A>G | |
| XR_001741141.1:n.753A>G | ||
| NM_147127.5:c.688A>G MANE Select | NP_667338.3:p.Ser230Gly | |
| NM_001166136.2:c.448A>G | NP_001159608.1:p.Ser150Gly |