COSMIC:
COSM1405073 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03133048 (AFR)
Genomes Max Group AF
0.03086176 (AFR)
Exomes Max Group AF
0.03093124 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21008720G>A , CM000664.2:g.21008720G>A | GRCh38 |
| NC_000002.11:g.21231592G>A , CM000664.1:g.21231592G>A | GRCh37 |
| NC_000002.10:g.21085097G>A | NCBI36 |
| NG_011793.1:g.40354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.8148C>T MANE Select | ENSP00000233242.1:p.Ile2716= | |
| ENST00000616098.4:c.8148C>T | ENSP00000477990.1:p.Ile2716= | |
| NM_000384.2:c.8148C>T | NP_000375.2:p.Ile2716= | |
| XM_011532809.1:c.5869+2013C>T | XP_011531111.1:n.5869+2013C>T | |
| NM_000384.3:c.8148C>T MANE Select | NP_000375.3:p.Ile2716= |