ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
Revel Score:
ENST00000393845 (MANE Select)
0.891
ENST00000295868
0.891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113396528A>T , CM000665.2:g.113396528A>T | GRCh38 |
| NC_000003.11:g.113115375A>T , CM000665.1:g.113115375A>T | GRCh37 |
| NC_000003.10:g.114598065A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393845.9:c.1769T>A MANE Select | ENSP00000377428.2:p.Leu590Gln | |
| ENST00000649772.1:c.*1870T>A | ENSP00000497606.1:n.*1870T>A | |
| ENST00000295868.6:c.1769T>A | ENSP00000295868.2:p.Leu590Gln | |
| ENST00000393845.6:c.1769T>A | ENSP00000377428.2:p.Leu590Gln | |
| ENST00000475568.1:n.387T>A | ||
| ENST00000488854.6:c.*1185T>A | ENSP00000419844.2:n.*1185T>A | |
| NM_001164496.1:c.1769T>A | NP_001157968.1:p.Leu590Gln | |
| NM_018338.3:c.1769T>A | NP_060808.2:p.Leu590Gln | |
| XM_006713696.1:c.1901T>A | XP_006713759.1:p.Leu634Gln | |
| XM_006713697.1:c.1748T>A | XP_006713760.1:p.Leu583Gln | |
| XM_006713699.2:c.1901T>A | XP_006713762.1:p.Leu634Gln | |
| XM_011512975.1:c.1901T>A | XP_011511277.1:p.Leu634Gln | |
| XM_011512976.1:c.1769T>A | XP_011511278.1:p.Leu590Gln | |
| XM_011512977.1:c.1901T>A | XP_011511279.1:p.Leu634Gln | |
| XM_011512978.1:c.1220T>A | XP_011511280.1:p.Leu407Gln | |
| XM_011512979.1:c.869T>A | XP_011511281.1:p.Leu290Gln | |
| XM_011512980.1:c.1901T>A | XP_011511282.1:p.Leu634Gln | |
| XM_011512981.1:c.1901T>A | XP_011511283.1:p.Leu634Gln | |
| XM_011512982.1:c.1901T>A | XP_011511284.1:p.Leu634Gln | |
| XM_011512983.1:c.1901T>A | XP_011511285.1:p.Leu634Gln | |
| XM_011512984.1:c.1901T>A | XP_011511286.1:p.Leu634Gln | |
| XR_427370.1:n.2426T>A | ||
| XR_427371.2:n.2426T>A | ||
| NM_001164496.2:c.1769T>A MANE Select | NP_001157968.1:p.Leu590Gln |