COSMIC:
COSM1130751 (not active)
Revel Score:
ENST00000377990 (MANE Select)
0.008
ENST00000546106
0.008
ENST00000260569
0.008
ENST00000545501
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21803376 (SAS)
Genomes Max Group AF
0.20139562 (SAS)
Exomes Max Group AF
0.21843036 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.65069664G>A , CM000664.2:g.65069664G>A | GRCh38 |
| NC_000002.11:g.65296798G>A , CM000664.1:g.65296798G>A | GRCh37 |
| NC_000002.10:g.65150302G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475851.2:c.-807-1790G>A | ENSP00000515515.1:n.-807-1790G>A | |
| ENST00000703915.1:c.220G>A | ENSP00000515549.1:p.Gly74Ser | |
| ENST00000703921.1:c.220G>A | ENSP00000515556.1:p.Gly74Ser | |
| ENST00000703983.1:c.220G>A | ENSP00000515601.1:p.Gly74Ser | |
| ENST00000703985.1:c.220G>A | ENSP00000515602.1:p.Gly74Ser | |
| ENST00000704387.1:c.-807-1790G>A | ENSP00000515889.1:n.-807-1790G>A | |
| ENST00000704388.1:c.220G>A | ENSP00000515890.1:p.Gly74Ser | |
| ENST00000704447.1:c.-807-1790G>A | ENSP00000515899.1:n.-807-1790G>A | |
| ENST00000704448.1:c.220G>A | ENSP00000515900.1:p.Gly74Ser | |
| ENST00000704449.1:c.-807-1790G>A | ENSP00000515901.1:n.-807-1790G>A | |
| ENST00000704450.1:c.220G>A | ENSP00000515902.1:p.Gly74Ser | |
| ENST00000704454.1:n.396G>A | ||
| ENST00000704456.1:c.220G>A | ENSP00000515906.1:p.Gly74Ser | |
| ENST00000704479.1:c.220G>A | ENSP00000515908.1:p.Gly74Ser | |
| ENST00000704480.1:c.220G>A | ENSP00000515909.1:p.Gly74Ser | |
| ENST00000704481.1:c.-807-1790G>A | ENSP00000515910.1:n.-807-1790G>A | |
| ENST00000704482.1:c.220G>A | ENSP00000515911.1:p.Gly74Ser | |
| ENST00000704483.1:n.105-12872G>A | ||
| ENST00000704484.1:c.-807-1790G>A | ENSP00000515912.1:n.-807-1790G>A | |
| ENST00000704486.1:c.220G>A | ENSP00000515914.1:p.Gly74Ser | |
| ENST00000704487.1:c.220G>A | ENSP00000515915.1:p.Gly74Ser | |
| ENST00000704570.1:c.220G>A | ENSP00000515946.1:p.Gly74Ser | |
| ENST00000704642.1:c.220G>A | ENSP00000515973.1:p.Gly74Ser | |
| ENST00000704643.1:n.116+233G>A | ||
| ENST00000706268.1:n.414G>A | ||
| ENST00000377990.7:c.220G>A MANE Select | ENSP00000367229.2:p.Gly74Ser | |
| ENST00000260569.4:c.220G>A | ENSP00000260569.4:p.Gly74Ser | |
| ENST00000377990.6:c.220G>A | ENSP00000367229.2:p.Gly74Ser | |
| ENST00000475851.1:n.160-1790G>A | ||
| ENST00000537589.1:c.-807-1790G>A | ENSP00000443357.1:n.-807-1790G>A | |
| NM_015147.2:c.220G>A | NP_055962.2:p.Gly74Ser | |
| XM_005264218.3:c.220G>A | XP_005264275.1:p.Gly74Ser | |
| XM_005264219.2:c.220G>A | XP_005264276.1:p.Gly74Ser | |
| XM_011532704.1:c.220G>A | XP_011531006.1:p.Gly74Ser | |
| XR_939674.1:n.423G>A | ||
| NM_001319100.1:c.220G>A | NP_001306029.1:p.Gly74Ser | |
| NM_001319101.1:c.220G>A | NP_001306030.1:p.Gly74Ser | |
| NR_134966.1:n.434G>A | ||
| XM_005264219.4:c.220G>A | XP_005264276.1:p.Gly74Ser | |
| XM_017003633.2:c.220G>A | XP_016859122.1:p.Gly74Ser | |
| XM_024452764.1:c.220G>A | XP_024308532.1:p.Gly74Ser | |
| XR_001738676.2:n.389G>A | ||
| XR_001738677.2:n.385G>A | ||
| XR_939674.3:n.385G>A | ||
| NM_015147.3:c.220G>A MANE Select | NP_055962.2:p.Gly74Ser | |
| NM_001319100.2:c.220G>A | NP_001306029.1:p.Gly74Ser | |
| NM_001319101.2:c.220G>A | NP_001306030.1:p.Gly74Ser | |
| NR_134966.2:n.379G>A |