COSMIC:
COSM4130866 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85180266 (NFE)
Genomes Max Group AF
0.83844382 (NFE)
Exomes Max Group AF
0.8523346 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8144965G>A , CM000679.2:g.8144965G>A | GRCh38 |
| NC_000017.10:g.8048283G>A , CM000679.1:g.8048283G>A | GRCh37 |
| NC_000017.9:g.7989008G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317276.9:c.2247C>T MANE Select | ENSP00000314420.4:p.Gly749= | |
| ENST00000317276.8:c.2247C>T | ENSP00000314420.4:p.Gly749= | |
| ENST00000354903.9:c.2199C>T | ENSP00000346979.5:p.Gly733= | |
| ENST00000578089.1:n.298-118C>T | ||
| ENST00000578950.1:n.206C>T | ||
| ENST00000581082.5:c.2187C>T | ENSP00000462064.1:p.Gly729= | |
| ENST00000581395.5:c.*242C>T | ENSP00000464696.1:n.*242C>T | |
| ENST00000582719.5:c.2247C>T | ENSP00000463054.1:p.Gly749= | |
| ENST00000583559.1:c.96C>T | ENSP00000463369.1:p.Gly32= | |
| NM_002616.2:c.2247C>T | NP_002607.2:p.Gly749= | |
| XM_005256689.1:c.2247C>T | XP_005256746.1:p.Gly749= | |
| XM_005256690.1:c.2067C>T | XP_005256747.1:p.Gly689= | |
| XM_005256689.2:c.2247C>T | XP_005256746.1:p.Gly749= | |
| XM_024450803.1:c.2067C>T | XP_024306571.1:p.Gly689= | |
| NM_002616.3:c.2247C>T MANE Select | NP_002607.2:p.Gly749= |