COSMIC:
COSN17599878 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51234666 (NFE)
Genomes Max Group AF
0.51234666 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162297853G>A , CM000664.2:g.162297853G>A | GRCh38 |
| NC_000002.11:g.163154363G>A , CM000664.1:g.163154363G>A | GRCh37 |
| NC_000002.10:g.162862609G>A | NCBI36 |
| NG_011495.1:g.25677C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*367-4185C>T | ENSP00000513228.1:n.*367-4185C>T | |
| ENST00000648433.1:c.770-4185C>T | ENSP00000496816.1:n.770-4185C>T | |
| ENST00000649554.1:n.380-4185C>T | ||
| ENST00000649979.2:c.770-4185C>T MANE Select | ENSP00000497271.1:n.770-4185C>T | |
| ENST00000679938.1:c.458-4185C>T | ENSP00000505518.1:n.458-4185C>T | |
| ENST00000263642.2:c.770-4185C>T | ENSP00000263642.2:n.770-4185C>T | |
| ENST00000464129.1:n.463-4185C>T | ||
| NM_022168.3:c.770-4185C>T | NP_071451.2:n.770-4185C>T | |
| XM_011511628.1:c.53-4185C>T | XP_011509930.1:n.53-4185C>T | |
| XM_011511629.1:c.770-4185C>T | XP_011509931.1:n.770-4185C>T | |
| NM_022168.4:c.770-4185C>T MANE Select | NP_071451.2:n.770-4185C>T |