COSMIC:
COSM5420309 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37477152 (MID)
Genomes Max Group AF
0.31484108 (NFE)
Exomes Max Group AF
0.37487069 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406692A>G , CM000666.2:g.47406692A>G | GRCh38 |
| NC_000004.11:g.47408709A>G , CM000666.1:g.47408709A>G | GRCh37 |
| NC_000004.10:g.47103466A>G | NCBI36 |
| NG_051831.1:g.380415A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.846A>G MANE Select | ENSP00000295454.3:p.Thr282= | |
| ENST00000295454.7:c.846A>G | ENSP00000295454.3:p.Thr282= | |
| NM_000812.3:c.846A>G | NP_000803.2:p.Thr282= | |
| XM_011513678.1:c.825A>G | XP_011511980.1:p.Thr275= | |
| XM_017007985.1:c.195A>G | XP_016863474.1:p.Thr65= | |
| XM_024453976.1:c.747A>G | XP_024309744.1:p.Thr249= | |
| XM_024453977.1:c.747A>G | XP_024309745.1:p.Thr249= | |
| XM_024453978.1:c.747A>G | XP_024309746.1:p.Thr249= | |
| NM_000812.4:c.846A>G MANE Select | NP_000803.2:p.Thr282= |