Linked Data
ClinVar Variation Id:
346030
dbSNP Id:
rs367726589
ExAC:
3:49456423 G / T
gnomAD v2:
3-49456423-G-T
gnomAD v3:
3-49418990-G-T
gnomAD v4:
3-49418990-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49418990G>T , CM000665.2:g.49418990G>T | GRCh38 |
| NC_000003.11:g.49456423G>T , CM000665.1:g.49456423G>T | GRCh37 |
| NC_000003.10:g.49431427G>T | NCBI36 |
| NG_015986.1:g.8689C>A , LRG_537:g.8689C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.858C>A MANE Select | ENSP00000273588.3:p.Gly286= | |
| ENST00000395338.7:c.858C>A | ENSP00000378747.2:p.Gly286= | |
| ENST00000399379.7:c.590C>A | ENSP00000399943.2:n.590C>A | |
| ENST00000427987.6:c.714C>A | ENSP00000403821.2:p.Gly238= | |
| ENST00000465925.6:n.2860C>A | ||
| ENST00000473163.2:n.3474C>A | ||
| ENST00000476127.6:n.1087C>A | ||
| ENST00000476226.6:n.1279C>A | ||
| ENST00000476828.2:n.1665C>A | ||
| ENST00000478594.6:n.1285C>A | ||
| ENST00000480957.6:n.2859C>A | ||
| ENST00000487589.6:n.771C>A | ||
| ENST00000491800.3:n.3483C>A | ||
| ENST00000493046.6:n.2749+720C>A | ||
| ENST00000538581.6:c.714C>A | ENSP00000443200.2:p.Gly238= | |
| ENST00000635772.1:n.1696C>A | ||
| ENST00000635798.1:n.391+270C>A | ||
| ENST00000635808.1:c.777C>A | ENSP00000489620.1:p.Gly259= | |
| ENST00000635889.1:n.1289C>A | ||
| ENST00000635907.1:n.591+270C>A | ||
| ENST00000635936.1:n.1126C>A | ||
| ENST00000636023.1:c.*31C>A | ENSP00000489969.1:n.*31C>A | |
| ENST00000636070.1:c.*638C>A | ENSP00000490160.1:n.*638C>A | |
| ENST00000636148.1:n.2911C>A | ||
| ENST00000636166.1:c.1095C>A | ENSP00000490106.1:p.Gly365= | |
| ENST00000636188.1:c.37C>A | ||
| ENST00000636199.1:c.420C>A | ENSP00000490871.1:p.Gly140= | |
| ENST00000636204.1:n.2140C>A | ||
| ENST00000636461.1:c.4392C>A | ||
| ENST00000636522.1:c.690C>A | ENSP00000489758.1:p.Gly230= | |
| ENST00000636587.1:n.944C>A | ||
| ENST00000636597.1:c.550+720C>A | ENSP00000490251.1:n.550+720C>A | |
| ENST00000636725.1:n.1574C>A | ||
| ENST00000636803.1:n.1200C>A | ||
| ENST00000636865.1:c.702C>A | ENSP00000490601.1:p.Gly234= | |
| ENST00000636871.1:n.1223C>A | ||
| ENST00000636978.1:n.970C>A | ||
| ENST00000636991.1:n.1303C>A | ||
| ENST00000637059.1:c.310C>A | ENSP00000490153.1:n.310C>A | |
| ENST00000637088.1:n.5670C>A | ||
| ENST00000637114.1:n.958C>A | ||
| ENST00000637268.1:n.1697C>A | ||
| ENST00000637291.1:n.1592C>A | ||
| ENST00000637442.1:n.3079C>A | ||
| ENST00000637455.1:c.669C>A | ENSP00000489628.1:p.Gly223= | |
| ENST00000637457.1:n.1719C>A | ||
| ENST00000637682.1:c.858C>A | ENSP00000489856.1:p.Gly286= | |
| ENST00000637684.1:n.1068C>A | ||
| ENST00000637821.1:c.*1168C>A | ENSP00000490482.1:n.*1168C>A | |
| ENST00000637914.1:n.2752C>A | ||
| ENST00000637982.1:n.1272C>A | ||
| ENST00000637994.1:n.1398C>A | ||
| ENST00000638014.1:c.3639C>A | ||
| ENST00000638063.1:c.777C>A | ENSP00000489760.1:p.Gly259= | |
| ENST00000638079.1:c.*1370C>A | ENSP00000490120.1:n.*1370C>A | |
| ENST00000638092.1:n.1378C>A | ||
| ENST00000638115.1:c.*2619C>A | ENSP00000490296.1:n.*2619C>A | |
| ENST00000273588.7:c.858C>A | ENSP00000273588.3:p.Gly286= | |
| ENST00000395338.6:c.858C>A | ENSP00000378747.2:p.Gly286= | |
| ENST00000399379.6:c.*638C>A | ENSP00000399943.1:n.*638C>A | |
| ENST00000427987.5:c.850C>A | ||
| ENST00000430521.1:c.690C>A | ENSP00000388068.1:p.Gly230= | |
| ENST00000458307.6:c.726C>A | ENSP00000415619.2:p.Gly242= | |
| ENST00000465925.5:n.2156C>A | ||
| ENST00000473163.1:n.227C>A | ||
| ENST00000476127.5:n.617C>A | ||
| ENST00000476226.5:n.923C>A | ||
| ENST00000491800.2:n.416C>A | ||
| ENST00000495436.5:n.654+270C>A | ||
| ENST00000538581.5:c.690C>A | ENSP00000443200.1:p.Gly230= | |
| NM_000481.3:c.858C>A , LRG_537t1:c.858C>A | NP_000472.2:p.Gly286= | |
| NM_001164710.1:c.726C>A | NP_001158182.1:p.Gly242= | |
| NM_001164711.1:c.690C>A | NP_001158183.1:p.Gly230= | |
| NM_001164712.1:c.858C>A | NP_001158184.1:p.Gly286= | |
| NR_028435.1:n.1072C>A | ||
| NM_000481.4:c.858C>A MANE Select | NP_000472.2:p.Gly286= | |
| NM_001164710.2:c.726C>A | NP_001158182.1:p.Gly242= | |
| NM_001164711.2:c.690C>A | NP_001158183.1:p.Gly230= | |
| NM_001164712.2:c.858C>A | NP_001158184.1:p.Gly286= | |
| NR_028435.2:n.867C>A |