Linked Data
ClinVar Variation Id:
129827
ClinVar RCV Id:
RCV002312195
dbSNP Id:
rs2303298
ExAC:
2:50850686 G / A
gnomAD v2:
2-50850686-G-A
gnomAD v3:
2-50623548-G-A
gnomAD v4:
2-50623548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50623548G>A , CM000664.2:g.50623548G>A | GRCh38 |
| NC_000002.11:g.50850686G>A , CM000664.1:g.50850686G>A | GRCh37 |
| NC_000002.10:g.50704190G>A | NCBI36 |
| NG_011878.1:g.413989C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.900C>T MANE Select | ENSP00000385017.2:p.Pro300= | |
| ENST00000626249.2:c.*94C>T | ENSP00000485723.2:n.*94C>T | |
| ENST00000331040.9:c.105C>T | ENSP00000489573.1:p.Pro35= | |
| ENST00000401669.6:c.900C>T | ENSP00000385017.2:p.Pro300= | |
| ENST00000402717.6:c.69C>T | ENSP00000385434.4:p.Pro23= | |
| ENST00000404971.5:c.999C>T | ENSP00000385142.1:p.Pro333= | |
| ENST00000405472.7:c.888C>T | ENSP00000434015.2:p.Pro296= | |
| ENST00000406316.6:c.900C>T | ENSP00000384311.2:p.Pro300= | |
| ENST00000406859.7:c.69C>T | ENSP00000385681.4:p.Pro23= | |
| ENST00000625672.2:c.900C>T | ENSP00000485887.1:p.Pro300= | |
| ENST00000625891.2:c.105C>T | ENSP00000489108.1:p.Pro35= | |
| ENST00000628515.2:c.840C>T | ENSP00000486544.1:p.Pro280= | |
| ENST00000628761.1:n.109C>T | ||
| ENST00000630431.1:n.382C>T | ||
| ENST00000630543.2:c.900C>T | ENSP00000486879.1:p.Pro300= | |
| NM_001135659.1:c.999C>T | NP_001129131.1:p.Pro333= | |
| NM_004801.4:c.900C>T | NP_004792.1:p.Pro300= | |
| XM_005264642.2:c.900C>T | XP_005264699.1:p.Pro300= | |
| XM_005264643.2:c.900C>T | XP_005264700.1:p.Pro300= | |
| XM_006712137.2:c.900C>T | XP_006712200.1:p.Pro300= | |
| XM_006712140.2:c.900C>T | XP_006712203.1:p.Pro300= | |
| XM_006712141.2:c.900C>T | XP_006712204.1:p.Pro300= | |
| XM_011533167.1:c.900C>T | XP_011531469.1:p.Pro300= | |
| XM_011533168.1:c.897C>T | XP_011531470.1:p.Pro299= | |
| XM_011533169.1:c.888C>T | XP_011531471.1:p.Pro296= | |
| XM_011533170.1:c.882C>T | XP_011531472.1:p.Pro294= | |
| XM_011533171.1:c.900C>T | XP_011531473.1:p.Pro300= | |
| XM_011533172.1:c.900C>T | XP_011531474.1:p.Pro300= | |
| XM_011533173.1:c.870C>T | XP_011531475.1:p.Pro290= | |
| XM_011533174.1:c.900C>T | XP_011531476.1:p.Pro300= | |
| XM_011533175.1:c.888C>T | XP_011531477.1:p.Pro296= | |
| XM_011533176.1:c.840C>T | XP_011531478.1:p.Pro280= | |
| XM_011533177.1:c.900C>T | XP_011531479.1:p.Pro300= | |
| XM_011533178.1:c.882C>T | XP_011531480.1:p.Pro294= | |
| XM_011533179.1:c.900C>T | XP_011531481.1:p.Pro300= | |
| XM_011533180.1:c.900C>T | XP_011531482.1:p.Pro300= | |
| XM_011533181.1:c.105C>T | XP_011531483.1:p.Pro35= | |
| XM_011533182.1:c.105C>T | XP_011531484.1:p.Pro35= | |
| XM_011533183.1:c.105C>T | XP_011531485.1:p.Pro35= | |
| XM_011533184.1:c.-61C>T | XP_011531486.1:n.-61C>T | |
| XR_245001.3:n.90-1263G>A | ||
| XR_245002.3:n.106-1263G>A | ||
| XR_940083.1:n.90-1263G>A | ||
| NM_001135659.2:c.999C>T | NP_001129131.1:p.Pro333= | |
| NM_001330077.1:c.900C>T | NP_001317006.1:p.Pro300= | |
| NM_001330078.1:c.900C>T | NP_001317007.1:p.Pro300= | |
| NM_001330082.1:c.900C>T | NP_001317011.1:p.Pro300= | |
| NM_001330083.1:c.840C>T | NP_001317012.1:p.Pro280= | |
| NM_001330084.1:c.840C>T | NP_001317013.1:p.Pro280= | |
| NM_001330085.1:c.900C>T | NP_001317014.1:p.Pro300= | |
| NM_001330086.1:c.900C>T | NP_001317015.1:p.Pro300= | |
| NM_001330087.1:c.840C>T | NP_001317016.1:p.Pro280= | |
| NM_001330088.1:c.870C>T | NP_001317017.1:p.Pro290= | |
| NM_001330093.1:c.897C>T | NP_001317022.1:p.Pro299= | |
| NM_001330094.1:c.888C>T | NP_001317023.1:p.Pro296= | |
| NM_001330095.1:c.900C>T | NP_001317024.1:p.Pro300= | |
| NM_001330096.1:c.840C>T | NP_001317025.1:p.Pro280= | |
| NM_004801.5:c.900C>T | NP_004792.1:p.Pro300= | |
| XM_005264642.4:c.900C>T | XP_005264699.1:p.Pro300= | |
| XM_006712137.4:c.900C>T | XP_006712200.1:p.Pro300= | |
| XM_006712140.4:c.900C>T | XP_006712203.2:p.Pro300= | |
| XM_011533167.3:c.900C>T | XP_011531469.1:p.Pro300= | |
| XM_011533172.3:c.900C>T | XP_011531474.1:p.Pro300= | |
| XM_011533175.3:c.888C>T | XP_011531477.1:p.Pro296= | |
| XM_011533177.3:c.900C>T | XP_011531479.1:p.Pro300= | |
| XM_011533178.3:c.882C>T | XP_011531480.1:p.Pro294= | |
| XM_011533180.3:c.900C>T | XP_011531482.1:p.Pro300= | |
| XM_011533183.2:c.105C>T | XP_011531485.1:p.Pro35= | |
| XM_017005303.2:c.900C>T | XP_016860792.1:p.Pro300= | |
| XM_017005304.2:c.897C>T | XP_016860793.1:p.Pro299= | |
| XM_017005305.2:c.900C>T | XP_016860794.1:p.Pro300= | |
| XM_017005306.2:c.888C>T | XP_016860795.1:p.Pro296= | |
| XM_017005307.2:c.882C>T | XP_016860796.1:p.Pro294= | |
| XM_017005308.2:c.900C>T | XP_016860797.1:p.Pro300= | |
| XM_017005309.2:c.900C>T | XP_016860798.1:p.Pro300= | |
| XM_017005310.2:c.870C>T | XP_016860799.1:p.Pro290= | |
| XM_017005311.2:c.900C>T | XP_016860800.1:p.Pro300= | |
| XM_017005314.2:c.840C>T | XP_016860803.1:p.Pro280= | |
| XM_017005315.2:c.900C>T | XP_016860804.1:p.Pro300= | |
| XM_017005316.2:c.882C>T | XP_016860805.1:p.Pro294= | |
| XM_017005318.2:c.900C>T | XP_016860807.1:p.Pro300= | |
| XM_017005320.2:c.900C>T | XP_016860809.1:p.Pro300= | |
| XM_017005321.2:c.900C>T | XP_016860810.1:p.Pro300= | |
| XM_017005322.2:c.900C>T | XP_016860811.1:p.Pro300= | |
| XM_017005324.2:c.900C>T | XP_016860813.1:p.Pro300= | |
| XM_017005325.2:c.900C>T | XP_016860814.1:p.Pro300= | |
| XM_017005326.2:c.882C>T | XP_016860815.1:p.Pro294= | |
| XM_017005327.2:c.900C>T | XP_016860816.1:p.Pro300= | |
| XM_017005329.2:c.900C>T | XP_016860818.1:p.Pro300= | |
| XM_017005334.2:c.-61C>T | XP_016860823.1:n.-61C>T | |
| XM_024453244.1:c.900C>T | XP_024309012.1:p.Pro300= | |
| XM_024453245.1:c.900C>T | XP_024309013.1:p.Pro300= | |
| XM_024453246.1:c.900C>T | XP_024309014.1:p.Pro300= | |
| XR_245002.4:n.822-1263G>A | ||
| NM_001330078.2:c.900C>T MANE Select | NP_001317007.1:p.Pro300= | |
| NM_001135659.3:c.999C>T | NP_001129131.1:p.Pro333= | |
| NM_001330077.2:c.900C>T | NP_001317006.1:p.Pro300= | |
| NM_001330082.2:c.900C>T | NP_001317011.1:p.Pro300= | |
| NM_001330083.2:c.840C>T | NP_001317012.1:p.Pro280= | |
| NM_001330084.2:c.840C>T | NP_001317013.1:p.Pro280= | |
| NM_001330085.2:c.900C>T | NP_001317014.1:p.Pro300= | |
| NM_001330086.2:c.900C>T | NP_001317015.1:p.Pro300= | |
| NM_001330087.2:c.840C>T | NP_001317016.1:p.Pro280= | |
| NM_001330088.2:c.870C>T | NP_001317017.1:p.Pro290= | |
| NM_001330093.2:c.897C>T | NP_001317022.1:p.Pro299= | |
| NM_001330094.2:c.888C>T | NP_001317023.1:p.Pro296= | |
| NM_001330095.2:c.900C>T | NP_001317024.1:p.Pro300= | |
| NM_001330096.2:c.840C>T | NP_001317025.1:p.Pro280= | |
| NM_004801.6:c.900C>T | NP_004792.1:p.Pro300= |