COSMIC:
COSN6611017 (not active)
COSN19643523 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24099241 (AFR)
Genomes Max Group AF
0.23744017 (AFR)
Exomes Max Group AF
0.24267547 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036607C>T , CM000673.2:g.68036607C>T | GRCh38 |
| NC_000011.9:g.67804074C>T , CM000673.1:g.67804074C>T | GRCh37 |
| NC_000011.8:g.67560650C>T | NCBI36 |
| NG_007878.1:g.2592C>T , LRG_115:g.2592C>T | |
| NG_017040.1:g.10991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.*14C>T MANE Select | ENSP00000315774.5:n.*14C>T | |
| ENST00000313468.9:c.*14C>T | ENSP00000315774.5:n.*14C>T | |
| ENST00000524810.5:c.579C>T | ||
| ENST00000528492.1:c.*14C>T | ENSP00000432848.1:n.*14C>T | |
| ENST00000531282.1:n.499C>T | ||
| NM_002496.3:c.*14C>T | NP_002487.1:n.*14C>T | |
| XM_005274013.1:c.*14C>T | XP_005274070.1:n.*14C>T | |
| XM_005274014.1:c.*14C>T | XP_005274071.1:n.*14C>T | |
| XM_005274015.1:c.*14C>T | XP_005274072.1:n.*14C>T | |
| XM_011545053.1:c.*14C>T | XP_011543355.1:n.*14C>T | |
| NM_002496.4:c.*14C>T MANE Select | NP_002487.1:n.*14C>T |