COSMIC:
COSN19618842
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56958245 (EAS)
Genomes Max Group AF
0.55469049 (EAS)
Exomes Max Group AF
0.56969462 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116533925G>T , CM000663.2:g.116533925G>T | GRCh38 |
| NC_000001.10:g.117076547G>T , CM000663.1:g.117076547G>T | GRCh37 |
| NC_000001.9:g.116878070G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369489.10:c.628+2040C>A (CD58) MANE Select | ENSP00000358501.5:n.628+2040C>A | |
| ENST00000319092.5:n.168C>A (NAP1L4P1) | ||
| ENST00000369487.3:c.628+2040C>A (CD58) | ENSP00000358499.3:n.628+2040C>A | |
| ENST00000369489.9:c.628+2040C>A (CD58) | ENSP00000358501.5:n.628+2040C>A | |
| ENST00000457047.6:c.628+2040C>A (CD58) | ENSP00000409080.2:n.628+2040C>A | |
| ENST00000464088.5:c.628+2040C>A (CD58) | ENSP00000432773.1:n.628+2040C>A | |
| ENST00000526981.1:c.280+10386C>A (CD58) | ENSP00000433648.1:n.280+10386C>A | |
| NM_001144822.1:c.628+2040C>A (CD58) | NP_001138294.1:n.628+2040C>A | |
| NM_001779.2:c.628+2040C>A (CD58) | NP_001770.1:n.628+2040C>A | |
| NR_026665.1:n.749+2040C>A (CD58) | ||
| XM_017002869.2:c.628+2040C>A (CD58) | XP_016858358.1:n.628+2040C>A | |
| NM_001779.3:c.628+2040C>A (CD58) MANE Select | NP_001770.1:n.628+2040C>A | |
| NR_026665.2:n.682+2040C>A (CD58) | ||
| NM_001144822.2:c.628+2040C>A (CD58) | NP_001138294.1:n.628+2040C>A |