COSMIC:
COSM1129965 (not active)
COSM1129966 (not active)
Revel Score:
ENST00000340880 (MANE Select)
0.048
ENST00000292609
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39537709 (AFR)
Genomes Max Group AF
0.39117638 (AFR)
Exomes Max Group AF
0.3970888 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15475861A>T , CM000681.2:g.15475861A>T | GRCh38 |
| NC_000019.9:g.15586672A>T , CM000681.1:g.15586672A>T | GRCh37 |
| NC_000019.8:g.15447672A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340880.5:c.809T>A MANE Select | ENSP00000345968.4:p.Met270Lys | |
| ENST00000292609.8:c.809T>A | ENSP00000292609.3:p.Met270Lys | |
| ENST00000340880.4:c.809T>A | ENSP00000345968.4:p.Met270Lys | |
| NM_052890.3:c.809T>A | NP_443122.3:p.Met270Lys | |
| XM_006722633.2:c.809T>A | XP_006722696.1:p.Met270Lys | |
| NM_001363546.1:c.809T>A | NP_001350475.1:p.Met270Lys | |
| NM_052890.4:c.809T>A MANE Select | NP_443122.3:p.Met270Lys |