Revel Score:
ENST00000265631 (MANE Select)
0.595
ENST00000416240
0.595
ENST00000542654
0.595
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00183867 (AFR)
Genomes Max Group AF
0.00163039 (AFR)
Exomes Max Group AF
0.00185925 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121309A>G , CM000669.2:g.96121309A>G | GRCh38 |
| NC_000007.13:g.95750621A>G , CM000669.1:g.95750621A>G | GRCh37 |
| NC_000007.12:g.95588557A>G | NCBI36 |
| NG_012247.1:g.205839T>C | |
| NG_012247.2:g.205839T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1910T>C MANE Select | ENSP00000265631.6:p.Val637Ala | |
| ENST00000265631.9:c.1910T>C | ENSP00000265631.5:p.Val637Ala | |
| ENST00000416240.6:c.1913T>C | ENSP00000400101.2:p.Val638Ala | |
| ENST00000494085.1:n.413T>C | ||
| NM_001160210.1:c.1913T>C | NP_001153682.1:p.Val638Ala | |
| NM_014251.2:c.1910T>C | NP_055066.1:p.Val637Ala | |
| NR_027662.1:n.1985T>C | ||
| XM_006715831.2:c.1943T>C | XP_006715894.1:p.Val648Ala | |
| XM_011515728.1:c.1058T>C | XP_011514030.1:p.Val353Ala | |
| XM_006715831.4:c.1943T>C | XP_006715894.1:p.Val648Ala | |
| XM_017011663.1:c.1901T>C | XP_016867152.1:p.Val634Ala | |
| XM_017011664.2:c.1058T>C | XP_016867153.1:p.Val353Ala | |
| XM_017011665.1:c.1058T>C | XP_016867154.1:p.Val353Ala | |
| XR_001744525.2:n.2156T>C | ||
| XR_002956405.1:n.2714T>C | ||
| NM_014251.3:c.1910T>C MANE Select | NP_055066.1:p.Val637Ala | |
| NR_027662.2:n.1936T>C | ||
| NM_001160210.2:c.1913T>C | NP_001153682.1:p.Val638Ala |