COSMIC:
COSM5009501 (not active)
COSM5009502 (not active)
Revel Score:
ENST00000442544 (MANE Select)
0.112
ENST00000304775
0.112
ENST00000412726
0.112
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61940278 (SAS)
Genomes Max Group AF
0.61532857 (SAS)
Exomes Max Group AF
0.61870643 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906232C>G , CM000680.2:g.52906232C>G | GRCh38 |
| NC_000018.9:g.50432602C>G , CM000680.1:g.50432602C>G | GRCh37 |
| NC_000018.8:g.48686600C>G | NCBI36 |
| NG_013341.1:g.571061C>G | |
| NG_013341.2:g.571061C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.601C>G MANE Select | ENSP00000389140.2:p.Arg201Gly | |
| ENST00000304775.12:c.402C>G | ||
| ENST00000412726.5:c.532C>G | ENSP00000397322.2:p.Arg178Gly | |
| ENST00000442544.6:c.601C>G | ENSP00000389140.2:p.Arg201Gly | |
| ENST00000579349.1:c.522C>G | ||
| ENST00000580024.1:n.514C>G | ||
| ENST00000581559.1:c.522C>G | ENSP00000463463.1:n.522C>G | |
| NM_005215.3:c.601C>G | NP_005206.2:p.Arg201Gly | |
| XM_011525843.1:c.601C>G | XP_011524145.1:p.Arg201Gly | |
| XM_011525845.1:c.601C>G | XP_011524147.1:p.Arg201Gly | |
| XM_011525846.1:c.601C>G | XP_011524148.1:p.Arg201Gly | |
| XM_017025568.1:c.601C>G | XP_016881057.1:p.Arg201Gly | |
| XM_017025569.1:c.601C>G | XP_016881058.1:p.Arg201Gly | |
| NM_005215.4:c.601C>G MANE Select | NP_005206.2:p.Arg201Gly |