Linked Data
ClinVar Variation Id:
11376
dbSNP Id:
rs128621200
gnomAD v4:
X-101356102-A-G
PubMed:
PMID:7880320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356102A>G , CM000685.2:g.101356102A>G | GRCh38 |
| NC_000023.10:g.100611090A>G , CM000685.1:g.100611090A>G | GRCh37 |
| NC_000023.9:g.100497746A>G | NCBI36 |
| NG_009616.1:g.35123T>C , LRG_128:g.35123T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478995.2:n.1676T>C | ||
| ENST00000488970.2:n.1674T>C | ||
| ENST00000695614.1:c.1516T>C | ENSP00000512053.1:p.Cys506Arg | |
| ENST00000695615.1:c.1516T>C | ENSP00000512054.1:p.Cys506Arg | |
| ENST00000695616.1:c.*1361T>C | ENSP00000512055.1:n.*1361T>C | |
| ENST00000695617.1:c.1513T>C | ENSP00000512056.1:p.Cys505Arg | |
| ENST00000695618.1:c.*1265T>C | ENSP00000512058.1:n.*1265T>C | |
| ENST00000695619.1:c.*1226T>C | ENSP00000512059.1:n.*1226T>C | |
| ENST00000695620.1:c.*1442T>C | ENSP00000512060.1:n.*1442T>C | |
| ENST00000695621.1:c.1516T>C | ENSP00000512061.1:p.Cys506Arg | |
| ENST00000695622.1:c.1453T>C | ENSP00000512062.1:p.Cys485Arg | |
| ENST00000695623.1:c.1510T>C | ENSP00000512063.1:p.Cys504Arg | |
| ENST00000695624.1:n.821T>C | ||
| ENST00000695625.1:c.1516T>C | ENSP00000512064.1:p.Cys506Arg | |
| ENST00000695626.1:c.321+682T>C | ENSP00000512065.1:n.321+682T>C | |
| ENST00000695627.1:c.529T>C | ENSP00000512066.1:p.Cys177Arg | |
| ENST00000695628.1:c.190+1407T>C | ENSP00000512067.1:n.190+1407T>C | |
| ENST00000695629.1:c.190+1407T>C | ENSP00000512068.1:n.190+1407T>C | |
| ENST00000695630.1:c.358+682T>C | ||
| ENST00000695631.1:c.114+2208T>C | ||
| ENST00000695632.1:n.366+682T>C | ||
| ENST00000703407.1:c.1039-1408T>C | ENSP00000512057.1:n.1039-1408T>C | |
| ENST00000308731.8:c.1516T>C MANE Select | ENSP00000308176.8:p.Cys506Arg | |
| ENST00000308731.7:c.1516T>C | ENSP00000308176.7:p.Cys506Arg | |
| ENST00000372880.5:c.1039-1408T>C | ENSP00000361971.1:n.1039-1408T>C | |
| ENST00000478995.1:n.188T>C | ||
| ENST00000618050.4:c.1516T>C | ENSP00000479125.1:p.Cys506Arg | |
| ENST00000621635.4:c.1618T>C | ENSP00000483570.1:p.Cys540Arg | |
| NM_000061.2:c.1516T>C , LRG_128t1:c.1516T>C | NP_000052.1:p.Cys506Arg | |
| NM_001287344.1:c.1618T>C | NP_001274273.1:p.Cys540Arg | |
| NM_001287345.1:c.1039-1408T>C | NP_001274274.1:n.1039-1408T>C | |
| NM_000061.3:c.1516T>C MANE Select | NP_000052.1:p.Cys506Arg | |
| NM_001287344.2:c.1618T>C | NP_001274273.1:p.Cys540Arg | |
| NM_001287345.2:c.1039-1408T>C | NP_001274274.1:n.1039-1408T>C |