COSMIC:
COSM4130865 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85125222 (NFE)
Genomes Max Group AF
0.83841218 (NFE)
Exomes Max Group AF
0.85173389 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8144851T>C , CM000679.2:g.8144851T>C | GRCh38 |
| NC_000017.10:g.8048169T>C , CM000679.1:g.8048169T>C | GRCh37 |
| NC_000017.9:g.7988894T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317276.9:c.2361A>G MANE Select | ENSP00000314420.4:p.Thr787= | |
| ENST00000317276.8:c.2361A>G | ENSP00000314420.4:p.Thr787= | |
| ENST00000354903.9:c.2313A>G | ENSP00000346979.5:p.Thr771= | |
| ENST00000578089.1:n.298-4A>G | ||
| ENST00000578950.1:n.320A>G | ||
| ENST00000581082.5:c.2301A>G | ENSP00000462064.1:p.Thr767= | |
| ENST00000581395.5:c.*356A>G | ENSP00000464696.1:n.*356A>G | |
| ENST00000582719.5:c.2361A>G | ENSP00000463054.1:p.Thr787= | |
| ENST00000583559.1:c.210A>G | ENSP00000463369.1:p.Thr70= | |
| NM_002616.2:c.2361A>G | NP_002607.2:p.Thr787= | |
| XM_005256689.1:c.2361A>G | XP_005256746.1:p.Thr787= | |
| XM_005256690.1:c.2181A>G | XP_005256747.1:p.Thr727= | |
| XM_005256689.2:c.2361A>G | XP_005256746.1:p.Thr787= | |
| XM_024450803.1:c.2181A>G | XP_024306571.1:p.Thr727= | |
| NM_002616.3:c.2361A>G MANE Select | NP_002607.2:p.Thr787= |