Revel Score:
ENST00000389054 (MANE Select)
0.152
ENST00000520569
0.152
ENST00000398562
0.152
ENST00000389057
0.152
ENST00000398566
0.152
ENST00000398557
0.152
ENST00000253811
0.152
ENST00000518047
0.152
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141575055C>G , CM000667.2:g.141575055C>G | GRCh38 |
| NC_000005.9:g.140954622C>G , CM000667.1:g.140954622C>G | GRCh37 |
| NC_000005.8:g.140934806C>G | NCBI36 |
| NG_011594.1:g.49001G>C | |
| NG_011594.2:g.49001G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.1553G>C MANE Select | ENSP00000373706.4:p.Gly518Ala | |
| ENST00000647330.1:c.1530G>C | ENSP00000494308.1:n.1530G>C | |
| ENST00000647433.1:c.1553G>C | ENSP00000494675.1:p.Gly518Ala | |
| ENST00000253811.10:c.1421G>C | ENSP00000253811.7:p.Gly474Ala | |
| ENST00000389054.7:c.1553G>C | ENSP00000373706.4:p.Gly518Ala | |
| ENST00000389057.9:c.1526G>C | ENSP00000373709.6:p.Gly509Ala | |
| ENST00000398557.8:c.1553G>C | ENSP00000381565.5:p.Gly518Ala | |
| ENST00000518047.5:c.1526G>C | ENSP00000428268.2:p.Gly509Ala | |
| NM_001079812.2:c.1526G>C | NP_001073280.1:p.Gly509Ala | |
| NM_001314007.1:c.1553G>C | NP_001300936.1:p.Gly518Ala | |
| NM_005219.4:c.1553G>C | NP_005210.3:p.Gly518Ala | |
| XM_011537572.1:c.1517G>C | XP_011535874.1:p.Gly506Ala | |
| XM_011537573.1:c.1487G>C | XP_011535875.1:p.Gly496Ala | |
| XM_024454384.1:c.1553G>C | XP_024310152.1:p.Gly518Ala | |
| XM_024454385.1:c.1526G>C | XP_024310153.1:p.Gly509Ala | |
| XM_024454386.1:c.1517G>C | XP_024310154.1:p.Gly506Ala | |
| XM_024454387.1:c.1487G>C | XP_024310155.1:p.Gly496Ala | |
| NM_005219.5:c.1553G>C MANE Select | NP_005210.3:p.Gly518Ala | |
| NM_001079812.3:c.1526G>C | NP_001073280.1:p.Gly509Ala | |
| NM_001314007.2:c.1553G>C | NP_001300936.1:p.Gly518Ala |