Revel Score:
ENST00000265631 (MANE Select)
0.750
ENST00000416240
0.750
ENST00000542654
0.750
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002907 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002828 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96184366C>A , CM000669.2:g.96184366C>A | GRCh38 |
| NC_000007.13:g.95813678C>A , CM000669.1:g.95813678C>A | GRCh37 |
| NC_000007.12:g.95651614C>A | NCBI36 |
| NG_012247.1:g.142782G>T | |
| NG_012247.2:g.142782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1088G>T MANE Select | ENSP00000265631.6:p.Gly363Val | |
| ENST00000265631.9:c.1088G>T | ENSP00000265631.5:p.Gly363Val | |
| ENST00000416240.6:c.1091G>T | ENSP00000400101.2:p.Gly364Val | |
| ENST00000484495.5:n.241G>T | ||
| ENST00000490072.5:n.155G>T | ||
| ENST00000492869.1:n.209G>T | ||
| NM_001160210.1:c.1091G>T | NP_001153682.1:p.Gly364Val | |
| NM_014251.2:c.1088G>T | NP_055066.1:p.Gly363Val | |
| NR_027662.1:n.1163G>T | ||
| XM_006715831.2:c.1121G>T | XP_006715894.1:p.Gly374Val | |
| XM_011515727.1:c.1121G>T | XP_011514029.1:p.Gly374Val | |
| XM_011515728.1:c.236G>T | XP_011514030.1:p.Gly79Val | |
| XM_006715831.4:c.1121G>T | XP_006715894.1:p.Gly374Val | |
| XM_011515727.3:c.1121G>T | XP_011514029.1:p.Gly374Val | |
| XM_017011663.1:c.1079G>T | XP_016867152.1:p.Gly360Val | |
| XM_017011664.2:c.236G>T | XP_016867153.1:p.Gly79Val | |
| XM_017011665.1:c.236G>T | XP_016867154.1:p.Gly79Val | |
| XR_001744525.2:n.1259G>T | ||
| XR_002956405.1:n.1892G>T | ||
| NM_014251.3:c.1088G>T MANE Select | NP_055066.1:p.Gly363Val | |
| NR_027662.2:n.1114G>T | ||
| NM_001160210.2:c.1091G>T | NP_001153682.1:p.Gly364Val |