Linked Data
ClinVar Variation Id:
91845
ClinVar RCV Id:
RCV000077753
dbSNP Id:
rs398122978
ExAC:
19:41211045 G / A
gnomAD v2:
19-41211045-G-A
gnomAD v3:
19-40705140-G-A
gnomAD v4:
19-40705140-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40705140G>A , CM000681.2:g.40705140G>A | GRCh38 |
| NC_000019.9:g.41211045G>A , CM000681.1:g.41211045G>A | GRCh37 |
| NC_000019.8:g.45902885G>A | NCBI36 |
| NG_027800.1:g.16746C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.532C>T MANE Select | ENSP00000315118.3:p.Arg178Trp | |
| ENST00000593724.2:n.393-1518C>T | ||
| ENST00000594490.6:c.454C>T | ENSP00000471310.2:p.Arg152Trp | |
| ENST00000594720.6:c.532C>T | ENSP00000470876.2:p.Arg178Trp | |
| ENST00000596455.6:n.824C>T | ||
| ENST00000601967.6:c.532C>T | ENSP00000470916.2:p.Arg178Trp | |
| ENST00000676555.1:c.532C>T | ENSP00000503387.1:p.Arg178Trp | |
| ENST00000676578.1:c.*274C>T | ENSP00000504076.1:n.*274C>T | |
| ENST00000676960.1:n.657C>T | ||
| ENST00000676962.1:n.811C>T | ||
| ENST00000677018.1:c.532C>T | ENSP00000503480.1:p.Arg178Trp | |
| ENST00000677039.1:n.587C>T | ||
| ENST00000677399.1:n.974C>T | ||
| ENST00000677496.1:c.205C>T | ENSP00000504773.1:p.Arg69Trp | |
| ENST00000677517.1:c.205C>T | ENSP00000503519.1:p.Arg69Trp | |
| ENST00000677633.1:c.525C>T | ENSP00000503645.1:p.Ser175= | |
| ENST00000677800.1:c.*3636C>T | ENSP00000503794.1:n.*3636C>T | |
| ENST00000678057.1:c.*96C>T | ENSP00000503762.1:n.*96C>T | |
| ENST00000678119.1:n.726C>T | ||
| ENST00000678166.1:n.816C>T | ||
| ENST00000678312.1:n.869C>T | ||
| ENST00000678316.1:c.507C>T | ENSP00000504112.1:p.Ser169= | |
| ENST00000678371.1:n.890C>T | ||
| ENST00000678404.1:c.532C>T | ENSP00000503944.1:p.Arg178Trp | |
| ENST00000678419.1:c.532C>T | ENSP00000504085.1:p.Arg178Trp | |
| ENST00000678433.1:n.892C>T | ||
| ENST00000678467.1:c.532C>T | ENSP00000504072.1:p.Arg178Trp | |
| ENST00000678569.1:c.532C>T | ENSP00000504261.1:p.Arg178Trp | |
| ENST00000678961.1:n.715C>T | ||
| ENST00000679002.1:n.711C>T | ||
| ENST00000679012.1:c.88C>T | ENSP00000504446.1:p.Arg30Trp | |
| ENST00000679070.1:c.198C>T | ENSP00000503759.1:p.Ser66= | |
| ENST00000679130.1:c.532C>T | ENSP00000504845.1:p.Arg178Trp | |
| ENST00000679315.1:c.*362C>T | ENSP00000503065.1:n.*362C>T | |
| ENST00000243583.10:c.409C>T | ENSP00000243583.5:p.Arg137Trp | |
| ENST00000324464.7:c.532C>T | ENSP00000315118.3:p.Arg178Trp | |
| ENST00000595254.5:c.205C>T | ENSP00000470894.1:p.Arg69Trp | |
| ENST00000596455.5:n.652C>T | ||
| ENST00000599643.5:c.291C>T | ENSP00000471192.1:p.Ser97= | |
| ENST00000600080.5:c.198C>T | ENSP00000473017.1:p.Ser66= | |
| ENST00000601304.5:c.*306C>T | ENSP00000472519.1:n.*306C>T | |
| ENST00000601451.5:n.977C>T | ||
| ENST00000601967.5:c.532C>T | ENSP00000470916.1:p.Arg178Trp | |
| NM_001142555.2:c.409C>T | NP_001136027.1:p.Arg137Trp | |
| NM_024876.3:c.532C>T | NP_079152.3:p.Arg178Trp | |
| XM_005259270.3:c.694C>T | XP_005259327.2:p.Arg232Trp | |
| XM_005259271.3:c.532C>T | XP_005259328.1:p.Arg178Trp | |
| XM_005259272.3:c.532C>T | XP_005259329.1:p.Arg178Trp | |
| XM_005259273.3:c.532C>T | XP_005259330.1:p.Arg178Trp | |
| XM_006723392.2:c.532C>T | XP_006723455.1:p.Arg178Trp | |
| XM_006723393.2:c.532C>T | XP_006723456.1:p.Arg178Trp | |
| XM_011527334.1:c.532C>T | XP_011525636.1:p.Arg178Trp | |
| XM_011527335.1:c.532C>T | XP_011525637.1:p.Arg178Trp | |
| XM_011527336.1:c.562C>T | XP_011525638.1:p.Arg188Trp | |
| XM_011527337.1:c.532C>T | XP_011525639.1:p.Arg178Trp | |
| XM_011527338.1:c.532C>T | XP_011525640.1:p.Arg178Trp | |
| NM_024876.4:c.532C>T MANE Select | NP_079152.3:p.Arg178Trp | |
| NM_001142555.3:c.409C>T | NP_001136027.1:p.Arg137Trp |