ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
Revel Score:
ENST00000370096 (MANE Select)
0.962
ENST00000358392
0.962
ENST00000353414
0.962
ENST00000512756
0.962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103006314C>T , CM000663.2:g.103006314C>T | GRCh38 |
| NC_000001.10:g.103471870C>T , CM000663.1:g.103471870C>T | GRCh37 |
| NC_000001.9:g.103244458C>T | NCBI36 |
| NG_008033.1:g.107183G>A | |
| NG_008033.2:g.107183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1685G>A MANE Select | ENSP00000359114.3:p.Gly562Asp | |
| ENST00000461720.6:c.1838G>A | ENSP00000494909.1:p.Gly613Asp | |
| ENST00000644186.1:c.1685G>A | ENSP00000493821.1:p.Gly562Asp | |
| ENST00000645458.1:c.1685G>A | ENSP00000494179.1:p.Gly562Asp | |
| ENST00000647280.1:c.1685G>A | ENSP00000494583.1:p.Gly562Asp | |
| ENST00000353414.8:c.1568G>A | ENSP00000302551.6:p.Gly523Asp | |
| ENST00000358392.6:c.1721G>A | ENSP00000351163.2:p.Gly574Asp | |
| ENST00000370096.7:c.1685G>A | ENSP00000359114.3:p.Gly562Asp | |
| ENST00000461720.5:n.33G>A | ||
| ENST00000512756.5:c.1337G>A | ENSP00000426533.1:p.Gly446Asp | |
| ENST00000635193.1:c.1003G>A | ||
| NM_001190709.1:c.1568G>A | NP_001177638.1:p.Gly523Asp | |
| NM_001854.3:c.1685G>A | NP_001845.3:p.Gly562Asp | |
| NM_080629.2:c.1721G>A | NP_542196.2:p.Gly574Asp | |
| NM_080630.3:c.1337G>A | NP_542197.3:p.Gly446Asp | |
| XM_011540719.1:c.1685G>A | XP_011539021.1:p.Gly562Asp | |
| XM_011540720.1:c.-83G>A | XP_011539022.1:n.-83G>A | |
| XM_011540721.1:c.-744G>A | XP_011539023.1:n.-744G>A | |
| XR_946545.1:n.2083G>A | ||
| NR_134980.1:n.2003G>A | ||
| XM_017000334.1:c.1838G>A | XP_016855823.1:p.Gly613Asp | |
| XM_017000335.1:c.1832G>A | XP_016855824.1:p.Gly611Asp | |
| XM_017000336.1:c.1838G>A | XP_016855825.1:p.Gly613Asp | |
| XM_017000337.1:c.236G>A | XP_016855826.1:p.Gly79Asp | |
| NM_001854.4:c.1685G>A MANE Select | NP_001845.3:p.Gly562Asp | |
| NM_080630.4:c.1337G>A | NP_542197.3:p.Gly446Asp | |
| NR_134980.2:n.2029G>A | ||
| NM_001190709.2:c.1568G>A | NP_001177638.1:p.Gly523Asp | |
| NM_080629.3:c.1721G>A | NP_542196.2:p.Gly574Asp |