Linked Data
dbSNP Id:
rs374204996
ExAC:
15:77325280 G / T
gnomAD v3:
15-77032939-G-T
gnomAD v4:
15-77032939-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032939G>T , CM000677.2:g.77032939G>T | GRCh38 |
| NC_000015.9:g.77325280G>T , CM000677.1:g.77325280G>T | GRCh37 |
| NC_000015.8:g.75112335G>T | NCBI36 |
| NG_007526.1:g.42816G>T , LRG_172:g.42816G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2082G>T | ||
| ENST00000697623.1:n.2335G>T | ||
| ENST00000558012.6:c.916G>T MANE Select | ENSP00000452746.1:p.Gly306Cys | |
| ENST00000379595.7:c.916G>T | ENSP00000368914.3:p.Gly306Cys | |
| ENST00000557995.1:n.580G>T | ||
| ENST00000558012.5:c.916G>T | ENSP00000452746.1:p.Gly306Cys | |
| ENST00000558870.1:c.78+545G>T | ||
| ENST00000559295.5:c.872+511G>T | ENSP00000452743.1:n.872+511G>T | |
| ENST00000559785.5:c.1145G>T | ENSP00000452986.1:p.Arg382Leu | |
| ENST00000560223.5:c.*1018G>T | ENSP00000454118.1:n.*1018G>T | |
| NM_003978.3:c.916G>T , LRG_172t1:c.916G>T | NP_003969.2:p.Gly306Cys | |
| XM_006720737.2:c.550G>T | XP_006720800.1:p.Gly184Cys | |
| XM_011522163.1:c.973G>T | XP_011520465.1:p.Gly325Cys | |
| XM_011522164.1:c.871G>T | XP_011520466.1:p.Gly291Cys | |
| XM_011522165.1:c.769G>T | XP_011520467.1:p.Gly257Cys | |
| XM_011522166.1:c.1007G>T | XP_011520468.1:p.Arg336Leu | |
| XM_011522167.1:c.895+545G>T | XP_011520469.1:n.895+545G>T | |
| XM_011522168.1:c.973G>T | XP_011520470.1:p.Gly325Cys | |
| XM_011522169.1:c.798+1661G>T | XP_011520471.1:n.798+1661G>T | |
| XM_011522170.1:c.372-2569G>T | XP_011520472.1:n.372-2569G>T | |
| XM_011522171.1:c.312-2569G>T | XP_011520473.1:n.312-2569G>T | |
| XM_011522172.1:c.312-2569G>T | XP_011520474.1:n.312-2569G>T | |
| XM_011522173.1:c.312-2569G>T | XP_011520475.1:n.312-2569G>T | |
| XR_931936.1:n.1457G>T | ||
| XR_931937.1:n.1400G>T | ||
| XR_931938.1:n.1345+545G>T | ||
| XR_931939.1:n.1248+1661G>T | ||
| XR_931940.1:n.1070-2569G>T | ||
| NM_001321135.1:c.872+511G>T | NP_001308064.1:n.872+511G>T | |
| NM_001321136.1:c.889G>T | NP_001308065.1:p.Gly297Cys | |
| NM_001321137.1:c.1111G>T | NP_001308066.1:p.Gly371Cys | |
| NM_003978.4:c.916G>T | NP_003969.2:p.Gly306Cys | |
| NR_135552.1:n.1150+1661G>T | ||
| XM_006720737.3:c.550G>T | XP_006720800.1:p.Gly184Cys | |
| XM_011522163.2:c.973G>T | XP_011520465.1:p.Gly325Cys | |
| XM_011522165.2:c.769G>T | XP_011520467.1:p.Gly257Cys | |
| XM_011522166.2:c.1007G>T | XP_011520468.1:p.Arg336Leu | |
| XM_011522167.2:c.895+545G>T | XP_011520469.1:n.895+545G>T | |
| XM_011522168.3:c.973G>T | XP_011520470.1:p.Gly325Cys | |
| XM_011522169.2:c.798+1661G>T | XP_011520471.1:n.798+1661G>T | |
| XR_931936.2:n.1455G>T | ||
| XR_931937.2:n.1398G>T | ||
| XR_931938.2:n.1343+545G>T | ||
| XR_931939.2:n.1246+1661G>T | ||
| NM_001321135.2:c.872+511G>T | NP_001308064.1:n.872+511G>T | |
| NM_001321136.2:c.889G>T | NP_001308065.1:p.Gly297Cys | |
| NM_003978.5:c.916G>T MANE Select | NP_003969.2:p.Gly306Cys | |
| NR_135552.2:n.1109+1661G>T |