COSMIC:
COSM3760568 (not active)
COSM3760569 (not active)
Revel Score:
ENST00000514940
0.056
ENST00000541843
0.056
ENST00000264758
0.089
ENST00000446856
0.089
ENST00000398125
0.089
ENST00000513328
0.089
ENST00000503455
0.089
ENST00000355842
0.089
ENST00000398123
0.089
ENST00000398129
0.089
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50302536 (EAS)
Genomes Max Group AF
0.46182991 (EAS)
Exomes Max Group AF
0.50669879 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2915035C>G , CM000666.2:g.2915035C>G | GRCh38 |
| NC_000004.11:g.2916762C>G , CM000666.1:g.2916762C>G | GRCh37 |
| NC_000004.10:g.2886560C>G | NCBI36 |
| NG_012037.1:g.76179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683351.1:c.1943C>G MANE Select | ENSP00000508142.1:p.Ser648Cys | |
| ENST00000651918.1:c.1757C>G | ENSP00000498269.1:p.Ser586Cys | |
| ENST00000264758.11:c.1850C>G | ENSP00000264758.6:p.Ser617Cys | |
| ENST00000355842.7:c.1850C>G | ENSP00000348100.3:p.Ser617Cys | |
| ENST00000398123.6:c.1850C>G | ENSP00000381191.2:p.Ser617Cys | |
| ENST00000398125.5:c.1850C>G | ENSP00000381193.1:p.Ser617Cys | |
| ENST00000398129.5:c.1757C>G | ENSP00000381197.1:p.Ser586Cys | |
| ENST00000446856.5:c.*412C>G | ENSP00000399828.2:n.*412C>G | |
| ENST00000503455.6:c.1850C>G | ENSP00000423024.2:p.Ser617Cys | |
| ENST00000513328.6:c.1757C>G | ENSP00000421907.2:p.Ser586Cys | |
| ENST00000513762.2:n.1537C>G | ||
| ENST00000514940.5:c.967C>G | ||
| ENST00000536424.2:c.105+6431C>G | ENSP00000438069.1:n.105+6431C>G | |
| ENST00000539149.1:n.331C>G | ||
| ENST00000541051.5:n.883C>G | ||
| ENST00000541843.2:c.94C>G | ||
| NM_001119.4:c.1757C>G | NP_001110.2:p.Ser586Cys | |
| NM_001286645.1:c.1850C>G | NP_001273574.1:p.Ser617Cys | |
| NM_014189.3:c.1850C>G | NP_054908.2:p.Ser617Cys | |
| NM_014190.3:c.1757C>G | NP_054909.2:p.Ser586Cys | |
| NM_176801.2:c.1850C>G | NP_789771.1:p.Ser617Cys | |
| XM_005247933.1:c.1943C>G | XP_005247990.1:p.Ser648Cys | |
| XM_005247934.1:c.1943C>G | XP_005247991.1:p.Ser648Cys | |
| XM_005247935.1:c.1850C>G | XP_005247992.1:p.Ser617Cys | |
| XM_005247936.1:c.1943C>G | XP_005247993.1:p.Ser648Cys | |
| XM_005247937.1:c.1850C>G | XP_005247994.1:p.Ser617Cys | |
| NM_001354754.1:c.1757C>G | NP_001341683.1:p.Ser586Cys | |
| NM_001354755.1:c.1757C>G | NP_001341684.1:p.Ser586Cys | |
| NM_001354756.1:c.1850C>G | NP_001341685.1:p.Ser617Cys | |
| NM_001354757.1:c.1757C>G | NP_001341686.1:p.Ser586Cys | |
| NM_001354758.1:c.1757C>G | NP_001341687.1:p.Ser586Cys | |
| NM_001354759.1:c.1850C>G | NP_001341688.1:p.Ser617Cys | |
| NM_001354761.1:c.1943C>G | NP_001341690.1:p.Ser648Cys | |
| NM_001354762.1:c.1943C>G | NP_001341691.1:p.Ser648Cys | |
| XM_005247934.2:c.1943C>G | XP_005247991.1:p.Ser648Cys | |
| XM_017007703.1:c.1943C>G | XP_016863192.1:p.Ser648Cys | |
| XM_017007704.1:c.1850C>G | XP_016863193.1:p.Ser617Cys | |
| XM_017007705.1:c.1850C>G | XP_016863194.1:p.Ser617Cys | |
| XM_017007706.2:c.1757C>G | XP_016863195.1:p.Ser586Cys | |
| XM_017007709.2:c.1757C>G | XP_016863198.1:p.Ser586Cys | |
| XM_024453887.1:c.1850C>G | XP_024309655.1:p.Ser617Cys | |
| XR_002959706.1:n.1916C>G | ||
| XR_002959707.1:n.2034C>G | ||
| NM_001119.5:c.1757C>G | NP_001110.2:p.Ser586Cys | |
| NM_001354754.2:c.1757C>G | NP_001341683.1:p.Ser586Cys | |
| NM_001354756.2:c.1850C>G | NP_001341685.1:p.Ser617Cys | |
| NM_001354757.2:c.1757C>G | NP_001341686.1:p.Ser586Cys | |
| NM_001354759.2:c.1850C>G | NP_001341688.1:p.Ser617Cys | |
| NM_001354761.2:c.1943C>G MANE Select | NP_001341690.1:p.Ser648Cys | |
| NM_001354762.2:c.1943C>G | NP_001341691.1:p.Ser648Cys | |
| NM_014190.4:c.1757C>G | NP_054909.2:p.Ser586Cys | |
| NM_001286645.2:c.1850C>G | NP_001273574.1:p.Ser617Cys | |
| NM_001354755.2:c.1757C>G | NP_001341684.1:p.Ser586Cys | |
| NM_001354758.2:c.1757C>G | NP_001341687.1:p.Ser586Cys | |
| NM_014189.4:c.1850C>G | NP_054908.2:p.Ser617Cys | |
| NM_176801.3:c.1850C>G | NP_789771.1:p.Ser617Cys |