COSMIC:
COSM5964711 (not active)
COSM5964712 (not active)
Revel Score:
ENST00000361915 (MANE Select)
0.766
ENST00000370165
0.766
ENST00000370163
0.766
ENST00000294724
0.766
ENST00000361302
0.766
ENST00000370161
0.766
ENST00000361522
0.766
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00458311 (AFR)
Genomes Max Group AF
0.0045161 (AFR)
Exomes Max Group AF
0.00429227 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99910775A>G , CM000663.2:g.99910775A>G | GRCh38 |
| NC_000001.10:g.100376331A>G , CM000663.1:g.100376331A>G | GRCh37 |
| NC_000001.9:g.100148919A>G | NCBI36 |
| NG_012865.1:g.65692A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.3764A>G MANE Select | ENSP00000355106.3:p.Asn1255Ser | |
| ENST00000637337.1:n.3975A>G | ||
| ENST00000294724.8:c.3764A>G | ENSP00000294724.4:p.Asn1255Ser | |
| ENST00000361302.7:c.3716A>G | ENSP00000354971.3:p.Asn1239Ser | |
| ENST00000361522.4:c.3713A>G | ENSP00000354635.4:p.Asn1238Ser | |
| ENST00000361915.7:c.3764A>G | ENSP00000355106.3:p.Asn1255Ser | |
| ENST00000370161.6:c.3716A>G | ENSP00000359180.2:p.Asn1239Ser | |
| ENST00000370163.7:c.3764A>G | ENSP00000359182.3:p.Asn1255Ser | |
| ENST00000370165.7:c.3764A>G | ENSP00000359184.3:p.Asn1255Ser | |
| NM_000028.2:c.3764A>G | NP_000019.2:p.Asn1255Ser | |
| NM_000642.2:c.3764A>G | NP_000633.2:p.Asn1255Ser | |
| NM_000643.2:c.3764A>G | NP_000634.2:p.Asn1255Ser | |
| NM_000644.2:c.3764A>G | NP_000635.2:p.Asn1255Ser | |
| NM_000645.2:c.3713A>G | NP_000636.2:p.Asn1238Ser | |
| NM_000646.2:c.3716A>G | NP_000637.2:p.Asn1239Ser | |
| XM_005270557.1:c.3764A>G | XP_005270614.1:p.Asn1255Ser | |
| XM_005270557.2:c.3764A>G | XP_005270614.1:p.Asn1255Ser | |
| XM_017000501.2:c.2024A>G | XP_016855990.1:p.Asn675Ser | |
| NM_000642.3:c.3764A>G MANE Select | NP_000633.2:p.Asn1255Ser |