COSMIC:
COSN15303764 (not active)
COSN26507789 (not active)
Revel Score:
ENST00000429071
0.001
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29423693 (SAS)
Genomes Max Group AF
0.29197461 (SAS)
Exomes Max Group AF
0.29372477 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.112457066C>T , CM000669.2:g.112457066C>T | GRCh38 |
| NC_000007.13:g.112097121C>T , CM000669.1:g.112097121C>T | GRCh37 |
| NC_000007.12:g.111884357C>T | NCBI36 |
| NG_027799.1:g.38923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403825.8:c.409+28C>T MANE Select | ENSP00000384477.3:n.409+28C>T | |
| ENST00000674887.1:c.259+28C>T | ENSP00000502760.1:n.259+28C>T | |
| ENST00000674915.1:c.409+28C>T | ENSP00000502525.1:n.409+28C>T | |
| ENST00000675041.1:c.259+28C>T | ENSP00000501576.1:n.259+28C>T | |
| ENST00000675578.1:c.409+28C>T | ENSP00000502336.1:n.409+28C>T | |
| ENST00000675717.1:c.409+28C>T | ENSP00000501686.1:n.409+28C>T | |
| ENST00000675905.1:c.409+28C>T | ENSP00000502605.1:n.409+28C>T | |
| ENST00000676282.1:c.409+28C>T | ENSP00000501830.1:n.409+28C>T | |
| ENST00000005558.8:c.409+28C>T | ENSP00000005558.4:n.409+28C>T | |
| ENST00000403825.7:c.409+28C>T | ENSP00000384477.3:n.409+28C>T | |
| ENST00000429071.5:c.437C>T | ENSP00000397314.1:p.Thr146Met | |
| ENST00000440625.5:c.259+28C>T | ENSP00000402177.1:n.259+28C>T | |
| ENST00000466459.5:n.43+28C>T | ||
| ENST00000476927.5:c.259+28C>T | ENSP00000437250.1:n.259+28C>T | |
| ENST00000535603.5:c.259+28C>T | ENSP00000439188.1:n.259+28C>T | |
| ENST00000621379.4:c.259+28C>T | ENSP00000483255.1:n.259+28C>T | |
| NM_001007245.2:c.409+28C>T | NP_001007246.1:n.409+28C>T | |
| NM_001197079.1:c.259+28C>T | NP_001184008.1:n.259+28C>T | |
| NM_001197080.1:c.259+28C>T | NP_001184009.1:n.259+28C>T | |
| NM_001550.3:c.409+28C>T | NP_001541.2:n.409+28C>T | |
| NR_120333.1:n.590+28C>T | ||
| XM_011516142.1:c.409+28C>T | XP_011514444.1:n.409+28C>T | |
| XM_011516143.1:c.259+28C>T | XP_011514445.1:n.259+28C>T | |
| XR_927462.1:n.2405+28C>T | ||
| XR_927463.1:n.2405+28C>T | ||
| XM_011516142.3:c.409+28C>T | XP_011514444.1:n.409+28C>T | |
| XM_011516143.3:c.259+28C>T | XP_011514445.1:n.259+28C>T | |
| XR_001744703.2:n.635+28C>T | ||
| XR_001744704.2:n.635+28C>T | ||
| XR_927462.3:n.635+28C>T | ||
| XR_927463.3:n.635+28C>T | ||
| NM_001007245.3:c.409+28C>T | NP_001007246.1:n.409+28C>T | |
| NM_001197079.2:c.259+28C>T | NP_001184008.1:n.259+28C>T | |
| NM_001197080.2:c.259+28C>T | NP_001184009.1:n.259+28C>T | |
| NM_001550.4:c.409+28C>T MANE Select | NP_001541.2:n.409+28C>T |