Linked Data
ClinVar Variation Id:
430735
dbSNP Id:
rs769468125
ExAC:
3:49457765 G / A
gnomAD v2:
3-49457765-G-A
gnomAD v3:
3-49420332-G-A
gnomAD v4:
3-49420332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49420332G>A , CM000665.2:g.49420332G>A | GRCh38 |
| NC_000003.11:g.49457765G>A , CM000665.1:g.49457765G>A | GRCh37 |
| NC_000003.10:g.49432769G>A | NCBI36 |
| NG_015986.1:g.7347C>T , LRG_537:g.7347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.350C>T MANE Select | ENSP00000273588.3:p.Ser117Leu | |
| ENST00000395338.7:c.350C>T | ENSP00000378747.2:p.Ser117Leu | |
| ENST00000399379.7:c.152C>T | ENSP00000399943.2:p.Ser51Leu | |
| ENST00000427987.6:c.206C>T | ENSP00000403821.2:p.Ser69Leu | |
| ENST00000430521.2:c.*152C>T | ENSP00000388068.2:n.*152C>T | |
| ENST00000462048.2:c.59C>T | ENSP00000490465.1:p.Ser20Leu | |
| ENST00000465925.6:n.1518C>T | ||
| ENST00000473163.2:n.2132C>T | ||
| ENST00000476127.6:n.227C>T | ||
| ENST00000476226.6:n.349C>T | ||
| ENST00000476828.2:n.323C>T | ||
| ENST00000478594.6:n.355C>T | ||
| ENST00000480957.6:n.1517C>T | ||
| ENST00000485108.6:n.480C>T | ||
| ENST00000487589.6:n.263C>T | ||
| ENST00000491800.3:n.2141C>T | ||
| ENST00000493046.6:n.2127C>T | ||
| ENST00000538581.6:c.206C>T | ENSP00000443200.2:p.Ser69Leu | |
| ENST00000635772.1:n.354C>T | ||
| ENST00000635808.1:c.269C>T | ENSP00000489620.1:p.Ser90Leu | |
| ENST00000635889.1:n.359C>T | ||
| ENST00000635936.1:n.342C>T | ||
| ENST00000636023.1:c.350C>T | ENSP00000489969.1:p.Ser117Leu | |
| ENST00000636070.1:c.*130C>T | ENSP00000490160.1:n.*130C>T | |
| ENST00000636148.1:n.1569C>T | ||
| ENST00000636166.1:c.587C>T | ENSP00000490106.1:p.Ser196Leu | |
| ENST00000636199.1:c.259-1181C>T | ENSP00000490871.1:n.259-1181C>T | |
| ENST00000636204.1:n.1632C>T | ||
| ENST00000636461.1:c.3462C>T | ||
| ENST00000636522.1:c.182C>T | ENSP00000489758.1:p.Ser61Leu | |
| ENST00000636587.1:n.582C>T | ||
| ENST00000636597.1:c.350C>T | ENSP00000490251.1:p.Ser117Leu | |
| ENST00000636725.1:n.340C>T | ||
| ENST00000636803.1:n.340C>T | ||
| ENST00000636865.1:c.206C>T | ENSP00000490601.1:p.Ser69Leu | |
| ENST00000636871.1:n.293C>T | ||
| ENST00000636978.1:n.354C>T | ||
| ENST00000636991.1:n.373C>T | ||
| ENST00000637059.1:c.70-544C>T | ENSP00000490153.1:n.70-544C>T | |
| ENST00000637088.1:n.4436C>T | ||
| ENST00000637114.1:n.342C>T | ||
| ENST00000637268.1:n.355C>T | ||
| ENST00000637291.1:n.358C>T | ||
| ENST00000637442.1:n.1845C>T | ||
| ENST00000637455.1:c.161C>T | ENSP00000489628.1:p.Ser54Leu | |
| ENST00000637457.1:n.377C>T | ||
| ENST00000637682.1:c.350C>T | ENSP00000489856.1:p.Ser117Leu | |
| ENST00000637684.1:n.452C>T | ||
| ENST00000637821.1:c.*130C>T | ENSP00000490482.1:n.*130C>T | |
| ENST00000637914.1:n.1518C>T | ||
| ENST00000637982.1:n.342C>T | ||
| ENST00000637994.1:n.360C>T | ||
| ENST00000638014.1:c.3131C>T | ||
| ENST00000638063.1:c.269C>T | ENSP00000489760.1:p.Ser90Leu | |
| ENST00000638079.1:c.*866C>T | ENSP00000490120.1:n.*866C>T | |
| ENST00000638092.1:n.340C>T | ||
| ENST00000638115.1:c.*2111C>T | ENSP00000490296.1:n.*2111C>T | |
| ENST00000273588.7:c.350C>T | ENSP00000273588.3:p.Ser117Leu | |
| ENST00000395338.6:c.350C>T | ENSP00000378747.2:p.Ser117Leu | |
| ENST00000399379.6:c.*130C>T | ENSP00000399943.1:n.*130C>T | |
| ENST00000427987.5:c.342C>T | ||
| ENST00000430521.1:c.182C>T | ENSP00000388068.1:p.Ser61Leu | |
| ENST00000458307.6:c.340-544C>T | ENSP00000415619.2:n.340-544C>T | |
| ENST00000461210.1:n.532C>T | ||
| ENST00000462048.1:n.407C>T | ||
| ENST00000465925.5:n.814C>T | ||
| ENST00000476226.5:n.415C>T | ||
| ENST00000476828.1:n.323C>T | ||
| ENST00000478594.5:n.344C>T | ||
| ENST00000480957.5:n.358C>T | ||
| ENST00000485108.5:n.344C>T | ||
| ENST00000487589.5:n.452C>T | ||
| ENST00000493046.5:n.251C>T | ||
| ENST00000495436.5:n.430-544C>T | ||
| ENST00000538581.5:c.182C>T | ENSP00000443200.1:p.Ser61Leu | |
| NM_000481.3:c.350C>T , LRG_537t1:c.350C>T | NP_000472.2:p.Ser117Leu | |
| NM_001164710.1:c.340-544C>T | NP_001158182.1:n.340-544C>T | |
| NM_001164711.1:c.182C>T | NP_001158183.1:p.Ser61Leu | |
| NM_001164712.1:c.350C>T | NP_001158184.1:p.Ser117Leu | |
| NR_028435.1:n.564C>T | ||
| NM_000481.4:c.350C>T MANE Select | NP_000472.2:p.Ser117Leu | |
| NM_001164710.2:c.340-544C>T | NP_001158182.1:n.340-544C>T | |
| NM_001164711.2:c.182C>T | NP_001158183.1:p.Ser61Leu | |
| NM_001164712.2:c.350C>T | NP_001158184.1:p.Ser117Leu | |
| NR_028435.2:n.359C>T |