Revel Score:
ENST00000287878 (MANE Select)
0.287
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151876554T>G , CM000669.2:g.151876554T>G | GRCh38 |
| NC_000007.13:g.151573639T>G , CM000669.1:g.151573639T>G | GRCh37 |
| NC_000007.12:g.151204572T>G | NCBI36 |
| NG_007486.1:g.5678A>C | |
| NG_007486.2:g.5678A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652321.2:c.67A>C | ENSP00000498886.2:p.Lys23Gln | |
| ENST00000287878.9:c.67A>C MANE Select | ENSP00000287878.3:p.Lys23Gln | |
| ENST00000652321.1:c.67A>C | ENSP00000498886.1:p.Lys23Gln | |
| ENST00000287878.8:c.67A>C | ENSP00000287878.3:p.Lys23Gln | |
| ENST00000474383.1:n.235A>C | ||
| ENST00000481434.5:n.572A>C | ||
| ENST00000488258.5:c.67A>C | ENSP00000420783.1:p.Lys23Gln | |
| NM_016203.3:c.67A>C | NP_057287.2:p.Lys23Gln | |
| XM_005250002.2:c.67A>C | XP_005250059.1:p.Lys23Gln | |
| XM_011516287.1:c.-647A>C | XP_011514589.1:n.-647A>C | |
| XM_005250002.4:c.67A>C | XP_005250059.1:p.Lys23Gln | |
| XM_017012269.1:c.67A>C | XP_016867758.1:p.Lys23Gln | |
| XM_017012278.1:c.-647A>C | XP_016867767.1:n.-647A>C | |
| NM_016203.4:c.67A>C MANE Select | NP_057287.2:p.Lys23Gln |