Linked Data
ClinVar Variation Id:
3839
dbSNP Id:
rs121908002
ExAC:
12:44172041 C / T
gnomAD v2:
12-44172041-C-T
gnomAD v3:
12-43778238-C-T
gnomAD v4:
12-43778238-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.43778238C>T , CM000674.2:g.43778238C>T | GRCh38 |
| NC_000012.11:g.44172041C>T , CM000674.1:g.44172041C>T | GRCh37 |
| NC_000012.10:g.42458308C>T | NCBI36 |
| NG_009892.1:g.24295C>T , LRG_75:g.24295C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696790.1:c.*548C>T | ENSP00000512872.1:n.*548C>T | |
| ENST00000696791.1:c.*779C>T | ENSP00000512873.1:n.*779C>T | |
| ENST00000696792.1:c.46C>T | ENSP00000512874.1:p.Gln16Ter | |
| ENST00000696795.1:c.*548C>T | ENSP00000512876.1:n.*548C>T | |
| ENST00000696796.1:c.*522C>T | ENSP00000512877.1:n.*522C>T | |
| ENST00000613694.5:c.877C>T MANE Select | ENSP00000479889.3:p.Gln293Ter | |
| ENST00000431837.5:c.505C>T | ENSP00000390327.1:p.Gln169Ter | |
| ENST00000440781.6:c.505C>T | ENSP00000408734.2:p.Gln169Ter | |
| ENST00000448290.6:c.875C>T | ENSP00000390651.3:n.875C>T | |
| ENST00000547101.5:c.*779C>T | ENSP00000449317.1:n.*779C>T | |
| ENST00000547521.5:c.*548C>T | ENSP00000449693.1:n.*548C>T | |
| ENST00000547928.1:n.396C>T | ||
| ENST00000550386.5:c.*779C>T | ENSP00000449848.1:n.*779C>T | |
| ENST00000550615.5:c.*548C>T | ENSP00000449553.1:n.*548C>T | |
| ENST00000551736.5:c.877C>T | ENSP00000446490.1:p.Gln293Ter | |
| ENST00000552309.5:c.*462C>T | ENSP00000448197.1:n.*462C>T | |
| ENST00000613694.4:c.877C>T | ENSP00000479889.2:p.Gln293Ter | |
| NM_001114182.2:c.877C>T | NP_001107654.1:p.Gln293Ter | |
| NM_001145256.1:c.505C>T | NP_001138728.1:p.Gln169Ter | |
| NM_001145257.1:c.505C>T | NP_001138729.1:p.Gln169Ter | |
| NM_001145258.1:c.505C>T | NP_001138730.1:p.Gln169Ter | |
| NM_016123.3:c.877C>T , LRG_75t1:c.877C>T | NP_057207.2:p.Gln293Ter | |
| XM_005268943.3:c.877C>T | XP_005269000.1:p.Gln293Ter | |
| XM_005268944.3:c.877C>T | XP_005269001.1:p.Gln293Ter | |
| XM_005268945.3:c.877C>T | XP_005269002.1:p.Gln293Ter | |
| XM_005268946.3:c.877C>T | XP_005269003.1:p.Gln293Ter | |
| XM_005268947.3:c.505C>T | XP_005269004.1:p.Gln169Ter | |
| XM_005268948.2:c.505C>T | XP_005269005.1:p.Gln169Ter | |
| XM_005268949.2:c.505C>T | XP_005269006.1:p.Gln169Ter | |
| XM_006719438.2:c.877C>T | XP_006719501.1:p.Gln293Ter | |
| XM_006719439.2:c.505C>T | XP_006719502.1:p.Gln169Ter | |
| XM_006719440.1:c.268C>T | XP_006719503.1:p.Gln90Ter | |
| XM_006719441.1:c.268C>T | XP_006719504.1:p.Gln90Ter | |
| XM_006719442.1:c.268C>T | XP_006719505.1:p.Gln90Ter | |
| XM_006719443.2:c.268C>T | XP_006719506.1:p.Gln90Ter | |
| XM_011538431.1:c.877C>T | XP_011536733.1:p.Gln293Ter | |
| XM_011538432.1:c.877C>T | XP_011536734.1:p.Gln293Ter | |
| XM_011538433.1:c.877C>T | XP_011536735.1:p.Gln293Ter | |
| NM_001351338.1:c.505C>T | NP_001338267.1:p.Gln169Ter | |
| NM_001351339.1:c.505C>T | NP_001338268.1:p.Gln169Ter | |
| NM_001351340.1:c.505C>T | NP_001338269.1:p.Gln169Ter | |
| NM_001351341.1:c.505C>T | NP_001338270.1:p.Gln169Ter | |
| NM_001351342.1:c.505C>T | NP_001338271.1:p.Gln169Ter | |
| NM_001351343.1:c.268C>T | NP_001338272.1:p.Gln90Ter | |
| NM_001351344.1:c.268C>T | NP_001338273.1:p.Gln90Ter | |
| NM_001351345.1:c.877C>T | NP_001338274.1:p.Gln293Ter | |
| XM_005268944.4:c.877C>T | XP_005269001.1:p.Gln293Ter | |
| XM_005268945.4:c.877C>T | XP_005269002.1:p.Gln293Ter | |
| XM_006719438.3:c.877C>T | XP_006719501.1:p.Gln293Ter | |
| XM_006719440.2:c.268C>T | XP_006719503.1:p.Gln90Ter | |
| XM_006719442.2:c.268C>T | XP_006719505.1:p.Gln90Ter | |
| XM_011538431.2:c.877C>T | XP_011536733.1:p.Gln293Ter | |
| XM_011538433.2:c.877C>T | XP_011536735.1:p.Gln293Ter | |
| XM_017019390.2:c.877C>T | XP_016874879.1:p.Gln293Ter | |
| NM_016123.4:c.877C>T MANE Select | NP_057207.2:p.Gln293Ter | |
| NM_001114182.3:c.877C>T | NP_001107654.1:p.Gln293Ter | |
| NM_001145256.2:c.505C>T | NP_001138728.1:p.Gln169Ter | |
| NM_001145257.2:c.505C>T | NP_001138729.1:p.Gln169Ter | |
| NM_001145258.2:c.505C>T | NP_001138730.1:p.Gln169Ter | |
| NM_001351338.2:c.505C>T | NP_001338267.1:p.Gln169Ter | |
| NM_001351339.2:c.505C>T | NP_001338268.1:p.Gln169Ter | |
| NM_001351340.2:c.505C>T | NP_001338269.1:p.Gln169Ter | |
| NM_001351341.2:c.505C>T | NP_001338270.1:p.Gln169Ter | |
| NM_001351342.2:c.505C>T | NP_001338271.1:p.Gln169Ter | |
| NM_001351343.2:c.268C>T | NP_001338272.1:p.Gln90Ter | |
| NM_001351344.2:c.268C>T | NP_001338273.1:p.Gln90Ter | |
| NM_001351345.2:c.877C>T | NP_001338274.1:p.Gln293Ter |