Linked Data
dbSNP Id:
rs765157455
ExAC:
7:114299687 C / T
gnomAD v2:
7-114299687-C-T
gnomAD v4:
7-114659632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114659632C>T , CM000669.2:g.114659632C>T | GRCh38 |
| NC_000007.13:g.114299687C>T , CM000669.1:g.114299687C>T | GRCh37 |
| NC_000007.12:g.114086923C>T | NCBI36 |
| NG_007491.2:g.578323C>T | |
| NG_007491.3:g.578323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1657C>T | ENSP00000385069.4:p.Arg553Trp | |
| ENST00000703612.1:c.1597C>T | ENSP00000515396.1:p.Arg533Trp | |
| ENST00000703613.1:c.1657C>T | ENSP00000515397.1:p.Arg553Trp | |
| ENST00000703614.1:c.1606C>T | ENSP00000515398.1:p.Arg536Trp | |
| ENST00000703616.1:c.1732C>T | ENSP00000515400.1:p.Arg578Trp | |
| ENST00000703617.1:c.1051C>T | ENSP00000515401.1:p.Arg351Trp | |
| ENST00000703618.1:c.545-2433C>T | ||
| ENST00000350908.9:c.1606C>T MANE Select | ENSP00000265436.7:p.Arg536Trp | |
| ENST00000393489.8:c.*1400C>T | ENSP00000377129.4:n.*1400C>T | |
| ENST00000350908.8:c.1606C>T | ENSP00000265436.7:p.Arg536Trp | |
| ENST00000393489.7:c.1330C>T | ENSP00000377129.3:p.Arg444Trp | |
| ENST00000393491.7:c.1051C>T | ENSP00000377130.3:p.Arg351Trp | |
| ENST00000393494.6:c.1606C>T | ENSP00000377132.2:p.Arg536Trp | |
| ENST00000393498.6:c.1543C>T | ENSP00000377135.2:p.Arg515Trp | |
| ENST00000403559.8:c.1657C>T | ENSP00000385069.4:p.Arg553Trp | |
| ENST00000408937.7:c.1681C>T | ENSP00000386200.3:p.Arg561Trp | |
| ENST00000412402.5:c.*1324C>T | ENSP00000405470.1:n.*1324C>T | |
| ENST00000441290.6:c.*1606C>T | ENSP00000416825.1:n.*1606C>T | |
| ENST00000634411.1:c.1555C>T | ENSP00000489135.1:p.Arg519Trp | |
| ENST00000634623.1:c.1546C>T | ENSP00000488944.1:p.Arg516Trp | |
| ENST00000635109.1:c.*1403C>T | ENSP00000489457.1:n.*1403C>T | |
| ENST00000635534.1:c.1597C>T | ENSP00000489229.1:p.Arg533Trp | |
| ENST00000635638.1:c.1609C>T | ENSP00000489073.1:p.Arg537Trp | |
| NM_001172766.2:c.1603C>T | NP_001166237.1:p.Arg535Trp | |
| NM_014491.3:c.1606C>T | NP_055306.1:p.Arg536Trp | |
| NM_148898.3:c.1681C>T | NP_683696.2:p.Arg561Trp | |
| NM_148900.3:c.1657C>T | NP_683698.2:p.Arg553Trp | |
| NR_033766.1:n.1991C>T | ||
| NR_033767.1:n.2038C>T | ||
| XM_011516706.1:c.1750C>T | XP_011515008.1:p.Arg584Trp | |
| XM_017012801.2:c.1681C>T | XP_016868290.1:p.Arg561Trp | |
| NM_014491.4:c.1606C>T MANE Select | NP_055306.1:p.Arg536Trp | |
| NM_001172766.3:c.1603C>T | NP_001166237.1:p.Arg535Trp | |
| NM_148898.4:c.1681C>T | NP_683696.2:p.Arg561Trp | |
| NR_033766.2:n.1974C>T | ||
| NR_033767.2:n.2220C>T | ||
| NM_148900.4:c.1657C>T | NP_683698.2:p.Arg553Trp |