Revel Score:
ENST00000324464 (MANE Select)
0.381
ENST00000450541
0.381
ENST00000243583
0.381
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40700387G>C , CM000681.2:g.40700387G>C | GRCh38 |
| NC_000019.9:g.41206292G>C , CM000681.1:g.41206292G>C | GRCh37 |
| NC_000019.8:g.45898132G>C | NCBI36 |
| NG_027800.1:g.21499C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.958C>G MANE Select | ENSP00000315118.3:p.Arg320Gly | |
| ENST00000593724.2:n.2781C>G | ||
| ENST00000594490.6:c.880C>G | ENSP00000471310.2:p.Arg294Gly | |
| ENST00000594720.6:c.958C>G | ENSP00000470876.2:p.Arg320Gly | |
| ENST00000596455.6:n.1250C>G | ||
| ENST00000601967.6:c.958C>G | ENSP00000470916.2:p.Arg320Gly | |
| ENST00000676555.1:c.958C>G | ENSP00000503387.1:p.Arg320Gly | |
| ENST00000676578.1:c.*700C>G | ENSP00000504076.1:n.*700C>G | |
| ENST00000676960.1:n.1083C>G | ||
| ENST00000676962.1:n.1237C>G | ||
| ENST00000677018.1:c.958C>G | ENSP00000503480.1:p.Arg320Gly | |
| ENST00000677039.1:n.3161C>G | ||
| ENST00000677399.1:n.1400C>G | ||
| ENST00000677496.1:c.631C>G | ENSP00000504773.1:p.Arg211Gly | |
| ENST00000677517.1:c.631C>G | ENSP00000503519.1:p.Arg211Gly | |
| ENST00000677633.1:c.*381C>G | ENSP00000503645.1:n.*381C>G | |
| ENST00000677800.1:c.*4062C>G | ENSP00000503794.1:n.*4062C>G | |
| ENST00000678057.1:c.*522C>G | ENSP00000503762.1:n.*522C>G | |
| ENST00000678119.1:n.1152C>G | ||
| ENST00000678166.1:n.1101C>G | ||
| ENST00000678312.1:n.1295C>G | ||
| ENST00000678316.1:c.*381C>G | ENSP00000504112.1:n.*381C>G | |
| ENST00000678371.1:n.1408C>G | ||
| ENST00000678404.1:c.958C>G | ENSP00000503944.1:p.Arg320Gly | |
| ENST00000678419.1:c.958C>G | ENSP00000504085.1:p.Arg320Gly | |
| ENST00000678433.1:n.1314C>G | ||
| ENST00000678467.1:c.958C>G | ENSP00000504072.1:p.Arg320Gly | |
| ENST00000678569.1:c.954C>G | ENSP00000504261.1:p.His318Gln | |
| ENST00000678961.1:n.1313C>G | ||
| ENST00000679002.1:n.1137C>G | ||
| ENST00000679012.1:c.514C>G | ENSP00000504446.1:p.Arg172Gly | |
| ENST00000679070.1:c.*377C>G | ENSP00000503759.1:n.*377C>G | |
| ENST00000679130.1:c.958C>G | ENSP00000504845.1:p.Arg320Gly | |
| ENST00000679315.1:c.*788C>G | ENSP00000503065.1:n.*788C>G | |
| ENST00000243583.10:c.835C>G | ENSP00000243583.5:p.Arg279Gly | |
| ENST00000324464.7:c.958C>G | ENSP00000315118.3:p.Arg320Gly | |
| ENST00000593724.1:n.1073C>G | ||
| NM_001142555.2:c.835C>G | NP_001136027.1:p.Arg279Gly | |
| NM_024876.3:c.958C>G | NP_079152.3:p.Arg320Gly | |
| XM_005259270.3:c.1120C>G | XP_005259327.2:p.Arg374Gly | |
| XM_005259271.3:c.958C>G | XP_005259328.1:p.Arg320Gly | |
| XM_005259272.3:c.958C>G | XP_005259329.1:p.Arg320Gly | |
| XM_005259273.3:c.958C>G | XP_005259330.1:p.Arg320Gly | |
| XM_006723392.2:c.958C>G | XP_006723455.1:p.Arg320Gly | |
| XM_006723393.2:c.958C>G | XP_006723456.1:p.Arg320Gly | |
| XM_011527334.1:c.958C>G | XP_011525636.1:p.Arg320Gly | |
| XM_011527335.1:c.817C>G | XP_011525637.1:p.Arg273Gly | |
| XM_011527336.1:c.988C>G | XP_011525638.1:p.Arg330Gly | |
| XM_011527337.1:c.958C>G | XP_011525639.1:p.Arg320Gly | |
| XM_011527338.1:c.958C>G | XP_011525640.1:p.Arg320Gly | |
| NM_024876.4:c.958C>G MANE Select | NP_079152.3:p.Arg320Gly | |
| NM_001142555.3:c.835C>G | NP_001136027.1:p.Arg279Gly |