Linked Data
ClinVar Variation Id:
1422853
ClinVar RCV Id:
RCV001945717
dbSNP Id:
rs775608955
ExAC:
5:58511628 G / A
gnomAD v2:
5-58511628-G-A
gnomAD v3:
5-59215802-G-A
gnomAD v4:
5-59215802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59215802G>A , CM000667.2:g.59215802G>A | GRCh38 |
| NC_000005.9:g.58511628G>A , CM000667.1:g.58511628G>A | GRCh37 |
| NC_000005.8:g.58547385G>A | NCBI36 |
| NG_027957.1:g.1277298C>T | |
| NG_027957.2:g.1313528C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.430C>T | ENSP00000424852.1:p.Arg144Trp | |
| ENST00000340635.11:c.622C>T MANE Select | ENSP00000345502.6:p.Arg208Trp | |
| ENST00000636120.1:c.292C>T | ENSP00000490821.1:p.Arg98Trp | |
| ENST00000638939.1:c.187C>T | ENSP00000492052.1:p.Arg63Trp | |
| ENST00000309641.10:c.430C>T | ENSP00000308485.6:p.Arg144Trp | |
| ENST00000340635.10:c.622C>T | ENSP00000345502.6:p.Arg208Trp | |
| ENST00000360047.9:c.214C>T | ENSP00000353152.5:p.Arg72Trp | |
| ENST00000405053.7:n.285C>T | ||
| ENST00000405755.6:c.256C>T | ENSP00000384806.2:p.Arg86Trp | |
| ENST00000502484.6:c.439C>T | ENSP00000423094.2:p.Arg147Trp | |
| ENST00000502575.1:c.430C>T | ENSP00000425917.1:p.Arg144Trp | |
| ENST00000503258.5:c.232C>T | ENSP00000425605.1:p.Arg78Trp | |
| ENST00000505453.1:c.-98-176831C>T | ENSP00000421013.1:n.-98-176831C>T | |
| ENST00000507116.5:c.430C>T | ENSP00000424852.1:p.Arg144Trp | |
| ENST00000514231.1:n.385C>T | ||
| ENST00000515324.1:n.134C>T | ||
| ENST00000546160.5:c.229C>T | ENSP00000442734.2:p.Arg77Trp | |
| ENST00000621323.4:n.167C>T | ||
| NM_001104631.1:c.622C>T | NP_001098101.1:p.Arg208Trp | |
| NM_001165899.1:c.439C>T | NP_001159371.1:p.Arg147Trp | |
| NM_001197218.1:c.430C>T | NP_001184147.1:p.Arg144Trp | |
| NM_001197219.1:c.256C>T | NP_001184148.1:p.Arg86Trp | |
| NM_001197220.1:c.232C>T | NP_001184149.1:p.Arg78Trp | |
| NM_006203.4:c.214C>T | NP_006194.2:p.Arg72Trp | |
| XM_005248537.2:c.292C>T | XP_005248594.1:p.Arg98Trp | |
| XM_005248538.3:c.214C>T | XP_005248595.1:p.Arg72Trp | |
| XM_011543469.1:c.586C>T | XP_011541771.1:p.Arg196Trp | |
| XM_011543470.1:c.586C>T | XP_011541772.1:p.Arg196Trp | |
| XM_011543471.1:c.439C>T | XP_011541773.1:p.Arg147Trp | |
| XM_011543472.1:c.439C>T | XP_011541774.1:p.Arg147Trp | |
| XM_011543473.1:c.439C>T | XP_011541775.1:p.Arg147Trp | |
| XM_011543474.1:c.409C>T | XP_011541776.1:p.Arg137Trp | |
| XM_011543475.1:c.256C>T | XP_011541777.1:p.Arg86Trp | |
| XM_011543476.1:c.202C>T | XP_011541778.1:p.Arg68Trp | |
| XM_011543477.1:c.181C>T | XP_011541779.1:p.Arg61Trp | |
| XM_011543478.1:c.118C>T | XP_011541780.1:p.Arg40Trp | |
| XM_011543479.1:c.118C>T | XP_011541781.1:p.Arg40Trp | |
| NM_001349241.1:c.409C>T | NP_001336170.1:p.Arg137Trp | |
| NM_001349242.1:c.292C>T | NP_001336171.1:p.Arg98Trp | |
| NM_001349243.1:c.-73C>T | NP_001336172.1:n.-73C>T | |
| NM_001364599.1:c.439C>T | NP_001351528.1:p.Arg147Trp | |
| NM_001364600.1:c.439C>T | NP_001351529.1:p.Arg147Trp | |
| NM_001364601.1:c.430C>T | NP_001351530.1:p.Arg144Trp | |
| NM_001364602.1:c.430C>T | NP_001351531.1:p.Arg144Trp | |
| NM_001364603.1:c.-329C>T | NP_001351532.1:n.-329C>T | |
| NM_001364604.1:c.-73C>T | NP_001351533.1:n.-73C>T | |
| XM_011543470.2:c.586C>T | XP_011541772.1:p.Arg196Trp | |
| XM_011543471.2:c.439C>T | XP_011541773.1:p.Arg147Trp | |
| XM_017009565.1:c.586C>T | XP_016865054.1:p.Arg196Trp | |
| XM_017009566.1:c.439C>T | XP_016865055.1:p.Arg147Trp | |
| XM_017009567.1:c.424C>T | XP_016865056.1:p.Arg142Trp | |
| XM_024446110.1:c.586C>T | XP_024301878.1:p.Arg196Trp | |
| XM_024446112.1:c.439C>T | XP_024301880.1:p.Arg147Trp | |
| NM_001104631.2:c.622C>T MANE Select | NP_001098101.1:p.Arg208Trp | |
| NM_001165899.2:c.439C>T | NP_001159371.1:p.Arg147Trp | |
| NM_001197218.2:c.430C>T | NP_001184147.1:p.Arg144Trp | |
| NM_001197219.2:c.256C>T | NP_001184148.1:p.Arg86Trp | |
| NM_001197220.2:c.232C>T | NP_001184149.1:p.Arg78Trp | |
| NM_001349241.2:c.409C>T | NP_001336170.1:p.Arg137Trp | |
| NM_001349243.2:c.-73C>T | NP_001336172.1:n.-73C>T | |
| NM_001364600.2:c.439C>T | NP_001351529.1:p.Arg147Trp | |
| NM_001364602.2:c.430C>T | NP_001351531.1:p.Arg144Trp | |
| NM_001349242.2:c.292C>T | NP_001336171.1:p.Arg98Trp | |
| NM_006203.5:c.214C>T | NP_006194.2:p.Arg72Trp |