COSMIC:
COSM3760609 (not active)
Revel Score:
ENST00000308979 (MANE Select)
0.142
ENST00000502213
0.142
ENST00000505940
0.142
ENST00000515861
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.089271 (NFE)
Genomes Max Group AF
0.09814775 (NFE)
Exomes Max Group AF
0.08862273 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38798593C>G , CM000666.2:g.38798593C>G | GRCh38 |
| NC_000004.11:g.38800214C>G , CM000666.1:g.38800214C>G | GRCh37 |
| NC_000004.10:g.38476609C>G | NCBI36 |
| NG_016228.1:g.11199G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308979.7:c.239G>C MANE Select | ENSP00000354932.2:p.Arg80Thr | |
| ENST00000308979.6:c.239G>C | ENSP00000354932.2:p.Arg80Thr | |
| ENST00000502213.6:c.239G>C | ENSP00000421259.1:p.Arg80Thr | |
| ENST00000505744.5:n.235+2264G>C | ||
| ENST00000505940.1:c.239G>C | ENSP00000421856.1:p.Arg80Thr | |
| ENST00000515861.5:c.239G>C | ENSP00000423017.1:p.Arg80Thr | |
| NM_003263.3:c.239G>C | NP_003254.2:p.Arg80Thr | |
| XM_005262662.3:c.239G>C | XP_005262719.1:p.Arg80Thr | |
| XM_006714028.2:c.239G>C | XP_006714091.1:p.Arg80Thr | |
| XM_011513742.1:c.239G>C | XP_011512044.1:p.Arg80Thr | |
| XM_011513743.1:c.239G>C | XP_011512045.1:p.Arg80Thr | |
| XM_011513744.1:c.239G>C | XP_011512046.1:p.Arg80Thr | |
| XM_011513745.1:c.239G>C | XP_011512047.1:p.Arg80Thr | |
| XR_925162.1:n.513G>C | ||
| XR_925163.1:n.513G>C | ||
| XR_925165.1:n.513G>C | ||
| XM_005262662.5:c.239G>C | XP_005262719.1:p.Arg80Thr | |
| XM_011513742.3:c.239G>C | XP_011512044.1:p.Arg80Thr | |
| XM_011513745.3:c.239G>C | XP_011512047.1:p.Arg80Thr | |
| XM_017008571.2:c.239G>C | XP_016864060.1:p.Arg80Thr | |
| XM_017008572.2:c.239G>C | XP_016864061.1:p.Arg80Thr | |
| XM_024454196.1:c.239G>C | XP_024309964.1:p.Arg80Thr | |
| XM_024454197.1:c.239G>C | XP_024309965.1:p.Arg80Thr | |
| XM_024454198.1:c.239G>C | XP_024309966.1:p.Arg80Thr | |
| XM_024454199.1:c.205+2264G>C | XP_024309967.1:n.205+2264G>C | |
| XR_925163.2:n.513G>C | ||
| XR_925165.2:n.513G>C | ||
| NM_003263.4:c.239G>C MANE Select | NP_003254.2:p.Arg80Thr |