CIViC:
Revel Score:
ENST00000311936 (MANE Select)
0.764
ENST00000256078 (MANE Plus Clinical)
0.764
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225713T>A , CM000674.2:g.25225713T>A | GRCh38 |
| NC_000012.11:g.25378647T>A , CM000674.1:g.25378647T>A | GRCh37 |
| NC_000012.10:g.25269914T>A | NCBI36 |
| NG_007524.1:g.30208A>T | |
| NG_007524.2:g.30291A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15802A>T | ENSP00000452512.1:n.112-15802A>T | |
| ENST00000685328.1:c.351A>T | ENSP00000508921.1:p.Lys117Asn | |
| ENST00000686877.1:c.*322A>T | ENSP00000510431.1:n.*322A>T | |
| ENST00000687356.1:c.*49A>T | ENSP00000510511.1:n.*49A>T | |
| ENST00000688228.1:n.825A>T | ||
| ENST00000688940.1:c.351A>T | ENSP00000509238.1:p.Lys117Asn | |
| ENST00000690406.1:c.61A>T | ||
| ENST00000690804.1:c.*312A>T | ENSP00000508568.1:n.*312A>T | |
| ENST00000692768.1:c.153A>T | ENSP00000510254.1:p.Lys51Asn | |
| ENST00000693229.1:c.276A>T | ENSP00000509223.1:p.Lys92Asn | |
| ENST00000256078.10:c.351A>T MANE Plus Clinical | ENSP00000256078.5:p.Lys117Asn | |
| ENST00000311936.8:c.351A>T MANE Select | ENSP00000308495.3:p.Lys117Asn | |
| ENST00000256078.8:c.351A>T | ENSP00000256078.4:p.Lys117Asn | |
| ENST00000311936.7:c.351A>T | ENSP00000308495.3:p.Lys117Asn | |
| ENST00000557334.5:c.112-15802A>T | ENSP00000452512.1:n.112-15802A>T | |
| NM_004985.4:c.351A>T | NP_004976.2:p.Lys117Asn | |
| NM_033360.3:c.351A>T | NP_203524.1:p.Lys117Asn | |
| XM_006719069.2:c.351A>T | XP_006719132.1:p.Lys117Asn | |
| XM_011520653.1:c.351A>T | XP_011518955.1:p.Lys117Asn | |
| XM_006719069.4:c.351A>T | XP_006719132.1:p.Lys117Asn | |
| XM_011520653.3:c.351A>T | XP_011518955.1:p.Lys117Asn | |
| NM_001369786.1:c.351A>T | NP_001356715.1:p.Lys117Asn | |
| NM_001369787.1:c.351A>T | NP_001356716.1:p.Lys117Asn | |
| NM_004985.5:c.351A>T MANE Select | NP_004976.2:p.Lys117Asn | |
| NM_033360.4:c.351A>T MANE Plus Clinical | NP_203524.1:p.Lys117Asn |