Linked Data
dbSNP Id:
rs773889776
ExAC:
1:236917340 C / A
gnomAD v2:
1-236917340-C-A
gnomAD v4:
1-236754040-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236754040C>A , CM000663.2:g.236754040C>A | GRCh38 |
| NC_000001.10:g.236917340C>A , CM000663.1:g.236917340C>A | GRCh37 |
| NC_000001.9:g.234983963C>A | NCBI36 |
| NG_009081.1:g.72571C>A | |
| NG_009081.2:g.94900C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.1933C>A | ENSP00000443495.1:p.Gln645Lys | |
| ENST00000461367.2:n.229C>A | ||
| ENST00000492634.7:n.1863C>A | ||
| ENST00000682015.1:c.1840C>A | ENSP00000506961.1:p.Gln614Lys | |
| ENST00000682692.1:n.3028C>A | ||
| ENST00000682966.1:n.7574C>A | ||
| ENST00000683111.1:c.*1219C>A | ENSP00000507913.1:n.*1219C>A | |
| ENST00000683322.1:n.3285C>A | ||
| ENST00000684050.1:n.4571C>A | ||
| ENST00000684286.1:n.3488C>A | ||
| ENST00000684502.1:n.3230C>A | ||
| ENST00000684763.1:n.548C>A | ||
| ENST00000366578.6:c.1933C>A MANE Select | ENSP00000355537.4:p.Gln645Lys | |
| ENST00000492634.6:n.1863C>A | ||
| ENST00000542672.6:c.1933C>A | ENSP00000443495.1:p.Gln645Lys | |
| ENST00000651091.1:c.1623C>A | ENSP00000498677.1:n.1623C>A | |
| ENST00000651275.1:c.1825C>A | ENSP00000498926.1:p.Gln609Lys | |
| ENST00000651781.1:c.1013C>A | ||
| ENST00000651786.1:c.*1305C>A | ENSP00000498364.1:n.*1305C>A | |
| ENST00000652096.1:c.*1338C>A | ENSP00000498896.1:n.*1338C>A | |
| ENST00000366578.5:c.1933C>A | ENSP00000355537.4:p.Gln645Lys | |
| ENST00000461367.1:n.142C>A | ||
| ENST00000542672.5:c.1933C>A | ENSP00000443495.1:p.Gln645Lys | |
| ENST00000546208.5:c.1309C>A | ENSP00000438384.2:p.Gln437Lys | |
| NM_001103.3:c.1933C>A | NP_001094.1:p.Gln645Lys | |
| NM_001278343.1:c.1933C>A | NP_001265272.1:p.Gln645Lys | |
| NM_001278344.1:c.1309C>A | NP_001265273.1:p.Gln437Lys | |
| NM_001278343.2:c.1933C>A | NP_001265272.1:p.Gln645Lys | |
| NM_001103.4:c.1933C>A MANE Select | NP_001094.1:p.Gln645Lys | |
| NM_001278344.2:c.1309C>A | NP_001265273.1:p.Gln437Lys |