COSMIC:
COSM3757659 (not active)
Revel Score:
ENST00000264169
0.040
ENST00000535373
0.040
ENST00000392858
0.040
ENST00000540442
0.040
ENST00000392857 (MANE Select)
0.040
ENST00000416719
0.040
ENST00000457954
0.040
ENST00000440042
0.040
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49955726 (EAS)
Genomes Max Group AF
0.49687155 (EAS)
Exomes Max Group AF
0.49809099 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.147958859T>C , CM000664.2:g.147958859T>C | GRCh38 |
| NC_000002.11:g.148716428T>C , CM000664.1:g.148716428T>C | GRCh37 |
| NC_000002.10:g.148432898T>C | NCBI36 |
| NG_028252.1:g.67746A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392857.10:c.233A>G MANE Select | ENSP00000376597.5:p.Asn78Ser | |
| ENST00000264169.6:c.233A>G | ENSP00000264169.2:p.Asn78Ser | |
| ENST00000392857.9:c.233A>G | ENSP00000376597.4:p.Asn78Ser | |
| ENST00000416719.5:c.233A>G | ENSP00000413939.1:p.Asn78Ser | |
| ENST00000440042.1:c.233A>G | ENSP00000403105.1:p.Asn78Ser | |
| ENST00000457954.5:c.233A>G | ENSP00000391484.1:p.Asn78Ser | |
| ENST00000461711.5:n.137A>G | ||
| ENST00000490200.5:n.307A>G | ||
| ENST00000495601.1:n.344A>G | ||
| ENST00000496670.6:n.99A>G | ||
| ENST00000535373.5:c.233A>G | ENSP00000441953.1:p.Asn78Ser | |
| ENST00000536575.5:c.-20A>G | ENSP00000441502.1:n.-20A>G | |
| ENST00000540442.5:c.11A>G | ENSP00000438326.1:p.Asn4Ser | |
| NM_001190879.2:c.233A>G | NP_001177808.1:p.Asn78Ser | |
| NM_001190881.2:c.-20A>G | NP_001177810.1:n.-20A>G | |
| NM_001190882.2:c.11A>G | NP_001177811.1:p.Asn4Ser | |
| NM_002552.4:c.233A>G | NP_002543.2:p.Asn78Ser | |
| NM_181741.3:c.233A>G | NP_859525.1:p.Asn78Ser | |
| NM_181742.3:c.233A>G | NP_859526.1:p.Asn78Ser | |
| XM_006712556.2:c.-20A>G | XP_006712619.1:n.-20A>G | |
| XM_011511255.1:c.233A>G | XP_011509557.1:p.Asn78Ser | |
| XM_011511255.2:c.233A>G | XP_011509557.1:p.Asn78Ser | |
| XM_017004226.2:c.233A>G | XP_016859715.1:p.Asn78Ser | |
| XM_024452929.1:c.-20A>G | XP_024308697.1:n.-20A>G | |
| NM_001374270.1:c.233A>G | NP_001361199.1:p.Asn78Ser | |
| NM_001374272.1:c.-20A>G | NP_001361201.1:n.-20A>G | |
| NM_002552.5:c.233A>G | NP_002543.2:p.Asn78Ser | |
| NM_181741.4:c.233A>G MANE Select | NP_859525.1:p.Asn78Ser | |
| NM_001190879.3:c.233A>G | NP_001177808.1:p.Asn78Ser | |
| NM_001190881.3:c.-20A>G | NP_001177810.1:n.-20A>G | |
| NM_001190882.3:c.11A>G | NP_001177811.1:p.Asn4Ser | |
| NM_181742.4:c.233A>G | NP_859526.1:p.Asn78Ser |