COSMIC:
COSM5976108 (not active)
Revel Score:
ENST00000369846 (MANE Select)
0.017
ENST00000392959
0.017
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065733 (MID)
Genomes Max Group AF
0.00006812 (NFE)
Exomes Max Group AF
0.00069093 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79491589A>G , CM000668.2:g.79491589A>G | GRCh38 |
| NC_000006.11:g.80201306A>G , CM000668.1:g.80201306A>G | GRCh37 |
| NC_000006.10:g.80258025A>G | NCBI36 |
| NG_016011.1:g.50842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1097T>C MANE Select | ENSP00000358861.4:p.Leu366Ser | |
| ENST00000369846.8:c.1097T>C | ENSP00000358861.4:p.Leu366Ser | |
| ENST00000392959.5:c.1097T>C | ENSP00000376686.1:p.Leu366Ser | |
| ENST00000467898.3:c.1097T>C | ENSP00000474463.1:p.Leu366Ser | |
| NM_001122769.2:c.1097T>C | NP_001116241.1:p.Leu366Ser | |
| NM_181714.3:c.1097T>C | NP_859065.2:p.Leu366Ser | |
| XM_005248665.3:c.1097T>C | XP_005248722.1:p.Leu366Ser | |
| XM_011535504.1:c.1097T>C | XP_011533806.1:p.Leu366Ser | |
| XM_005248665.4:c.1097T>C | XP_005248722.1:p.Leu366Ser | |
| NM_001122769.3:c.1097T>C MANE Select | NP_001116241.1:p.Leu366Ser | |
| NM_181714.4:c.1097T>C | NP_859065.2:p.Leu366Ser |