Revel Score:
ENST00000265631 (MANE Select)
0.932
ENST00000416240
0.932
ENST00000542654
0.932
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00008834 (EAS)
Exomes Max Group AF
0.00009928 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121997C>T , CM000669.2:g.96121997C>T | GRCh38 |
| NC_000007.13:g.95751309C>T , CM000669.1:g.95751309C>T | GRCh37 |
| NC_000007.12:g.95589245C>T | NCBI36 |
| NG_012247.1:g.205151G>A | |
| NG_012247.2:g.205151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1592G>A MANE Select | ENSP00000265631.6:p.Gly531Asp | |
| ENST00000265631.9:c.1592G>A | ENSP00000265631.5:p.Gly531Asp | |
| ENST00000416240.6:c.1595G>A | ENSP00000400101.2:p.Gly532Asp | |
| ENST00000494085.1:n.2G>A | ||
| NM_001160210.1:c.1595G>A | NP_001153682.1:p.Gly532Asp | |
| NM_014251.2:c.1592G>A | NP_055066.1:p.Gly531Asp | |
| NR_027662.1:n.1667G>A | ||
| XM_006715831.2:c.1625G>A | XP_006715894.1:p.Gly542Asp | |
| XM_011515728.1:c.740G>A | XP_011514030.1:p.Gly247Asp | |
| XM_006715831.4:c.1625G>A | XP_006715894.1:p.Gly542Asp | |
| XM_017011663.1:c.1583G>A | XP_016867152.1:p.Gly528Asp | |
| XM_017011664.2:c.740G>A | XP_016867153.1:p.Gly247Asp | |
| XM_017011665.1:c.740G>A | XP_016867154.1:p.Gly247Asp | |
| XR_001744525.2:n.1838G>A | ||
| XR_002956405.1:n.2396G>A | ||
| NM_014251.3:c.1592G>A MANE Select | NP_055066.1:p.Gly531Asp | |
| NR_027662.2:n.1618G>A | ||
| NM_001160210.2:c.1595G>A | NP_001153682.1:p.Gly532Asp |