Linked Data
dbSNP Id:
rs758427088
ExAC:
7:114299688 G / A
gnomAD v2:
7-114299688-G-A
gnomAD v3:
7-114659633-G-A
gnomAD v4:
7-114659633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114659633G>A , CM000669.2:g.114659633G>A | GRCh38 |
| NC_000007.13:g.114299688G>A , CM000669.1:g.114299688G>A | GRCh37 |
| NC_000007.12:g.114086924G>A | NCBI36 |
| NG_007491.2:g.578324G>A | |
| NG_007491.3:g.578324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1658G>A | ENSP00000385069.4:p.Arg553Gln | |
| ENST00000703612.1:c.1598G>A | ENSP00000515396.1:p.Arg533Gln | |
| ENST00000703613.1:c.1658G>A | ENSP00000515397.1:p.Arg553Gln | |
| ENST00000703614.1:c.1607G>A | ENSP00000515398.1:p.Arg536Gln | |
| ENST00000703616.1:c.1733G>A | ENSP00000515400.1:p.Arg578Gln | |
| ENST00000703617.1:c.1052G>A | ENSP00000515401.1:p.Arg351Gln | |
| ENST00000703618.1:c.545-2432G>A | ||
| ENST00000350908.9:c.1607G>A MANE Select | ENSP00000265436.7:p.Arg536Gln | |
| ENST00000393489.8:c.*1401G>A | ENSP00000377129.4:n.*1401G>A | |
| ENST00000350908.8:c.1607G>A | ENSP00000265436.7:p.Arg536Gln | |
| ENST00000393489.7:c.1331G>A | ENSP00000377129.3:p.Arg444Gln | |
| ENST00000393491.7:c.1052G>A | ENSP00000377130.3:p.Arg351Gln | |
| ENST00000393494.6:c.1607G>A | ENSP00000377132.2:p.Arg536Gln | |
| ENST00000393498.6:c.1544G>A | ENSP00000377135.2:p.Arg515Gln | |
| ENST00000403559.8:c.1658G>A | ENSP00000385069.4:p.Arg553Gln | |
| ENST00000408937.7:c.1682G>A | ENSP00000386200.3:p.Arg561Gln | |
| ENST00000412402.5:c.*1325G>A | ENSP00000405470.1:n.*1325G>A | |
| ENST00000441290.6:c.*1607G>A | ENSP00000416825.1:n.*1607G>A | |
| ENST00000634411.1:c.1556G>A | ENSP00000489135.1:p.Arg519Gln | |
| ENST00000634623.1:c.1547G>A | ENSP00000488944.1:p.Arg516Gln | |
| ENST00000635109.1:c.*1404G>A | ENSP00000489457.1:n.*1404G>A | |
| ENST00000635534.1:c.1598G>A | ENSP00000489229.1:p.Arg533Gln | |
| ENST00000635638.1:c.1610G>A | ENSP00000489073.1:p.Arg537Gln | |
| NM_001172766.2:c.1604G>A | NP_001166237.1:p.Arg535Gln | |
| NM_014491.3:c.1607G>A | NP_055306.1:p.Arg536Gln | |
| NM_148898.3:c.1682G>A | NP_683696.2:p.Arg561Gln | |
| NM_148900.3:c.1658G>A | NP_683698.2:p.Arg553Gln | |
| NR_033766.1:n.1992G>A | ||
| NR_033767.1:n.2039G>A | ||
| XM_011516706.1:c.1751G>A | XP_011515008.1:p.Arg584Gln | |
| XM_017012801.2:c.1682G>A | XP_016868290.1:p.Arg561Gln | |
| NM_014491.4:c.1607G>A MANE Select | NP_055306.1:p.Arg536Gln | |
| NM_001172766.3:c.1604G>A | NP_001166237.1:p.Arg535Gln | |
| NM_148898.4:c.1682G>A | NP_683696.2:p.Arg561Gln | |
| NR_033766.2:n.1975G>A | ||
| NR_033767.2:n.2221G>A | ||
| NM_148900.4:c.1658G>A | NP_683698.2:p.Arg553Gln |