Revel Score:
ENST00000543245
0.954
ENST00000356839 (MANE Select)
0.954
ENST00000350303
0.954
ENST00000322910
0.954
ENST00000542255
0.954
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221008G>T , CM000679.2:g.7221008G>T | GRCh38 |
| NC_000017.10:g.7124327G>T , CM000679.1:g.7124327G>T | GRCh37 |
| NC_000017.9:g.7065051G>T | NCBI36 |
| NG_007975.1:g.6175G>T | |
| NG_008391.2:g.4043C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.427G>T MANE Select | ENSP00000349297.5:p.Gly143Cys | |
| ENST00000322910.9:c.*382G>T | ENSP00000325395.5:n.*382G>T | |
| ENST00000350303.9:c.361G>T | ENSP00000344152.5:p.Gly121Cys | |
| ENST00000356839.9:c.427G>T | ENSP00000349297.5:p.Gly143Cys | |
| ENST00000543245.6:c.496G>T | ENSP00000438689.2:p.Gly166Cys | |
| ENST00000577191.5:n.504G>T | ||
| ENST00000577433.5:n.635G>T | ||
| ENST00000577857.5:n.293+178G>T | ||
| ENST00000579286.5:n.608G>T | ||
| ENST00000579886.2:c.265G>T | ENSP00000463246.1:p.Gly89Cys | |
| ENST00000580365.1:n.158G>T | ||
| ENST00000581378.5:c.126G>T | ||
| ENST00000581562.5:n.474G>T | ||
| ENST00000582056.5:n.610G>T | ||
| ENST00000582166.1:n.408G>T | ||
| ENST00000583312.5:c.427G>T | ENSP00000467920.1:p.Gly143Cys | |
| ENST00000584103.5:c.460G>T | ENSP00000465353.1:p.Gly154Cys | |
| NM_000018.3:c.427G>T | NP_000009.1:p.Gly143Cys | |
| NM_001033859.2:c.361G>T | NP_001029031.1:p.Gly121Cys | |
| NM_001270447.1:c.496G>T | NP_001257376.1:p.Gly166Cys | |
| NM_001270448.1:c.199G>T | NP_001257377.1:p.Gly67Cys | |
| XM_006721516.2:c.427G>T | XP_006721579.2:p.Gly143Cys | |
| XM_011523829.1:c.427G>T | XP_011522131.1:p.Gly143Cys | |
| XM_011523830.1:c.427G>T | XP_011522132.1:p.Gly143Cys | |
| XR_934021.1:n.534G>T | ||
| XR_934022.1:n.534G>T | ||
| XR_934023.1:n.534G>T | ||
| XM_006721516.3:c.427G>T | XP_006721579.2:p.Gly143Cys | |
| XM_011523829.2:c.427G>T | XP_011522131.1:p.Gly143Cys | |
| XM_011523830.2:c.427G>T | XP_011522132.1:p.Gly143Cys | |
| XM_024450741.1:c.427G>T | XP_024306509.1:p.Gly143Cys | |
| XR_934021.2:n.486G>T | ||
| XR_934022.2:n.486G>T | ||
| XR_934023.2:n.486G>T | ||
| NM_000018.4:c.427G>T MANE Select | NP_000009.1:p.Gly143Cys | |
| NM_001033859.3:c.361G>T | NP_001029031.1:p.Gly121Cys | |
| NM_001270447.2:c.496G>T | NP_001257376.1:p.Gly166Cys | |
| NM_001270448.2:c.199G>T | NP_001257377.1:p.Gly67Cys |