COSMIC:
COSM1560763 (not active)
COSM3751816 (not active)
Revel Score:
ENST00000426033
0.071
ENST00000325239 (MANE Select)
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67944698 (EAS)
Genomes Max Group AF
0.67132583 (EAS)
Exomes Max Group AF
0.67839368 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.48817351G>A , CM000672.2:g.48817351G>A | GRCh38 |
| NC_000010.10:g.50025396G>A , CM000672.1:g.50025396G>A | GRCh37 |
| NC_000010.9:g.49695402G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325239.12:c.5447G>A MANE Select | ENSP00000320563.5:p.Arg1816Gln | |
| ENST00000325239.11:c.5447G>A | ENSP00000320563.5:p.Arg1816Gln | |
| ENST00000325239.9:c.5447G>A | ENSP00000320563.5:p.Arg1816Gln | |
| ENST00000374161.7:c.1086G>A | ||
| NM_020945.1:c.5447G>A | NP_065996.1:p.Arg1816Gln | |
| XM_005270004.2:c.5447G>A | XP_005270061.1:p.Arg1816Gln | |
| XM_011539986.1:c.5447G>A | XP_011538288.1:p.Arg1816Gln | |
| XM_011539987.1:c.5447G>A | XP_011538289.1:p.Arg1816Gln | |
| XM_011539988.1:c.5447G>A | XP_011538290.1:p.Arg1816Gln | |
| XM_011539989.1:c.5567G>A | XP_011538291.1:p.Arg1856Gln | |
| XM_011539990.1:c.5567G>A | XP_011538292.1:p.Arg1856Gln | |
| XM_011539991.1:c.5567G>A | XP_011538293.1:p.Arg1856Gln | |
| XM_005270004.3:c.5447G>A | XP_005270061.1:p.Arg1816Gln | |
| XM_011539986.3:c.5567G>A | XP_011538288.2:p.Arg1856Gln | |
| XM_011539987.2:c.5567G>A | XP_011538289.2:p.Arg1856Gln | |
| XM_011539988.2:c.5447G>A | XP_011538290.1:p.Arg1816Gln | |
| XM_011539990.3:c.5567G>A | XP_011538292.1:p.Arg1856Gln | |
| XM_011539991.3:c.5567G>A | XP_011538293.1:p.Arg1856Gln | |
| XM_017016463.1:c.5447G>A | XP_016871952.1:p.Arg1816Gln | |
| XM_017016464.1:c.1871G>A | XP_016871953.1:p.Arg624Gln | |
| NM_020945.2:c.5447G>A | NP_065996.1:p.Arg1816Gln | |
| NM_001394531.1:c.5447G>A MANE Select | NP_001381460.1:p.Arg1816Gln |