Linked Data
ClinVar Variation Id:
384005
dbSNP Id:
rs1057521814
gnomAD v2:
X-100608911-G-A
gnomAD v4:
X-101353923-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353923G>A , CM000685.2:g.101353923G>A | GRCh38 |
| NC_000023.10:g.100608911G>A , CM000685.1:g.100608911G>A | GRCh37 |
| NC_000023.9:g.100495567G>A | NCBI36 |
| NG_009616.1:g.37302C>T , LRG_128:g.37302C>T | |
| NG_011734.1:g.47C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3214C>T | ||
| ENST00000488970.2:n.3853C>T | ||
| ENST00000695614.1:c.1697C>T | ENSP00000512053.1:p.Pro566Leu | |
| ENST00000695615.1:c.1697C>T | ENSP00000512054.1:p.Pro566Leu | |
| ENST00000695616.1:c.*1542C>T | ENSP00000512055.1:n.*1542C>T | |
| ENST00000695617.1:c.1694C>T | ENSP00000512056.1:p.Pro565Leu | |
| ENST00000695618.1:c.*1446C>T | ENSP00000512058.1:n.*1446C>T | |
| ENST00000695619.1:c.*1407C>T | ENSP00000512059.1:n.*1407C>T | |
| ENST00000695620.1:c.*1623C>T | ENSP00000512060.1:n.*1623C>T | |
| ENST00000695621.1:c.*122C>T | ENSP00000512061.1:n.*122C>T | |
| ENST00000695622.1:c.1634C>T | ENSP00000512062.1:p.Pro545Leu | |
| ENST00000695623.1:c.1691C>T | ENSP00000512063.1:p.Pro564Leu | |
| ENST00000695624.1:n.1002C>T | ||
| ENST00000695625.1:c.1697C>T | ENSP00000512064.1:p.Pro566Leu | |
| ENST00000695626.1:c.452C>T | ENSP00000512065.1:n.452C>T | |
| ENST00000695627.1:c.645C>T | ENSP00000512066.1:n.645C>T | |
| ENST00000695628.1:c.256C>T | ENSP00000512067.1:n.256C>T | |
| ENST00000695629.1:c.191-572C>T | ENSP00000512068.1:n.191-572C>T | |
| ENST00000695630.1:c.424C>T | ||
| ENST00000695631.1:c.115-675C>T | ||
| ENST00000695632.1:n.497C>T | ||
| ENST00000703407.1:c.1169C>T | ENSP00000512057.1:p.Pro390Leu | |
| ENST00000308731.8:c.1697C>T MANE Select | ENSP00000308176.8:p.Pro566Leu | |
| ENST00000308731.7:c.1697C>T | ENSP00000308176.7:p.Pro566Leu | |
| ENST00000372880.5:c.1169C>T | ENSP00000361971.1:p.Pro390Leu | |
| ENST00000470069.1:n.62C>T | ||
| ENST00000488970.1:n.299C>T | ||
| ENST00000618050.4:c.1697C>T | ENSP00000479125.1:p.Pro566Leu | |
| ENST00000621635.4:c.1799C>T | ENSP00000483570.1:p.Pro600Leu | |
| NM_000061.2:c.1697C>T , LRG_128t1:c.1697C>T | NP_000052.1:p.Pro566Leu | |
| NM_001287344.1:c.1799C>T | NP_001274273.1:p.Pro600Leu | |
| NM_001287345.1:c.1169C>T | NP_001274274.1:p.Pro390Leu | |
| NM_000061.3:c.1697C>T MANE Select | NP_000052.1:p.Pro566Leu | |
| NM_001287344.2:c.1799C>T | NP_001274273.1:p.Pro600Leu | |
| NM_001287345.2:c.1169C>T | NP_001274274.1:p.Pro390Leu |