Linked Data
ClinVar Variation Id:
419545
dbSNP Id:
rs587777172
ExAC:
1:225591105 C / A
gnomAD v2:
1-225591105-C-A
gnomAD v3:
1-225403403-C-A
gnomAD v4:
1-225403403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225403403C>A , CM000663.2:g.225403403C>A | GRCh38 |
| NC_000001.10:g.225591105C>A , CM000663.1:g.225591105C>A | GRCh37 |
| NC_000001.9:g.223657728C>A | NCBI36 |
| NG_008099.1:g.30415G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272163.9:c.1748G>T MANE Select | ENSP00000272163.4:p.Arg583Leu | |
| ENST00000651341.1:c.*914G>T | ENSP00000499114.1:n.*914G>T | |
| ENST00000272163.8:c.1748G>T | ENSP00000272163.4:p.Arg583Leu | |
| ENST00000338179.6:c.1748G>T | ENSP00000339883.2:p.Arg583Leu | |
| ENST00000441022.1:n.223G>T | ||
| NM_002296.3:c.1748G>T | NP_002287.2:p.Arg583Leu | |
| NM_194442.2:c.1748G>T | NP_919424.1:p.Arg583Leu | |
| XM_005273125.2:c.1622G>T | XP_005273182.1:p.Arg541Leu | |
| XM_011544185.1:c.1748G>T | XP_011542487.1:p.Arg583Leu | |
| XM_011544186.1:c.1667G>T | XP_011542488.1:p.Arg556Leu | |
| XM_005273125.3:c.1622G>T | XP_005273182.1:p.Arg541Leu | |
| XM_011544185.3:c.1748G>T | XP_011542487.1:p.Arg583Leu | |
| XR_001737168.2:n.1771G>T | ||
| NM_002296.4:c.1748G>T MANE Select | NP_002287.2:p.Arg583Leu | |
| NM_194442.3:c.1748G>T | NP_919424.1:p.Arg583Leu |