Linked Data
ClinVar Variation Id:
5168
dbSNP Id:
rs111033591
ExAC:
12:977863 C / T
gnomAD v2:
12-977863-C-T
gnomAD v3:
12-868697-C-T
gnomAD v4:
12-868697-C-T
PubMed:
PMID:15911806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.868697C>T , CM000674.2:g.868697C>T | GRCh38 |
| NC_000012.11:g.977863C>T , CM000674.1:g.977863C>T | GRCh37 |
| NC_000012.10:g.848124C>T | NCBI36 |
| NG_007984.2:g.120639C>T | |
| NG_007984.3:g.120639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.2140-2568C>T MANE Select | ENSP00000313059.6:n.2140-2568C>T | |
| ENST00000340908.9:c.3226C>T MANE Plus Clinical | ENSP00000341292.5:p.Arg1076Ter | |
| ENST00000674810.1:n.172C>T | ||
| ENST00000675631.1:c.919-2568C>T | ENSP00000502415.1:n.919-2568C>T | |
| ENST00000676347.1:c.408+6427C>T | ENSP00000501875.1:n.408+6427C>T | |
| ENST00000315939.10:c.2140-2568C>T | ENSP00000313059.6:n.2140-2568C>T | |
| ENST00000340908.8:c.3226C>T | ENSP00000341292.5:p.Arg1076Ter | |
| ENST00000530271.6:c.2971C>T | ENSP00000433548.3:p.Arg991Ter | |
| ENST00000535572.5:c.2140-2568C>T | ENSP00000441972.1:n.2140-2568C>T | |
| ENST00000535698.1:c.36+6427C>T | ENSP00000439552.1:n.36+6427C>T | |
| ENST00000537687.5:c.2971C>T | ENSP00000444465.1:p.Arg991Ter | |
| ENST00000544965.5:c.190+6427C>T | ||
| ENST00000545285.5:c.98-2568C>T | ||
| ENST00000574564.1:c.868C>T | ENSP00000460651.1:p.Arg290Ter | |
| ENST00000574679.1:c.130C>T | ENSP00000459380.1:p.Arg44Ter | |
| NM_001184985.1:c.2971C>T | NP_001171914.1:p.Arg991Ter | |
| NM_014823.2:c.2140-2568C>T | NP_055638.2:n.2140-2568C>T | |
| NM_018979.3:c.2140-2568C>T | NP_061852.3:n.2140-2568C>T | |
| NM_213655.4:c.3226C>T | NP_998820.3:p.Arg1076Ter | |
| XM_006719003.1:c.2140-2568C>T | XP_006719066.1:n.2140-2568C>T | |
| XM_011520997.1:c.2971C>T | XP_011519299.1:p.Arg991Ter | |
| XM_011520998.1:c.2971C>T | XP_011519300.1:p.Arg991Ter | |
| XM_011520999.1:c.2971C>T | XP_011519301.1:p.Arg991Ter | |
| XM_011521000.1:c.2971C>T | XP_011519302.1:p.Arg991Ter | |
| XM_011521001.1:c.2971C>T | XP_011519303.1:p.Arg991Ter | |
| XM_011521002.1:c.2971C>T | XP_011519304.1:p.Arg991Ter | |
| XM_011521003.1:c.2971C>T | XP_011519305.1:p.Arg991Ter | |
| XM_011521004.1:c.2971C>T | XP_011519306.1:p.Arg991Ter | |
| XM_011521005.1:c.1750C>T | XP_011519307.1:p.Arg584Ter | |
| XM_011521006.1:c.2139+6427C>T | XP_011519308.1:n.2139+6427C>T | |
| XM_011521007.1:c.2139+6427C>T | XP_011519309.1:n.2139+6427C>T | |
| XM_011521008.1:c.2139+6427C>T | XP_011519310.1:n.2139+6427C>T | |
| XM_011521009.1:c.2139+6427C>T | XP_011519311.1:n.2139+6427C>T | |
| XM_006719003.2:c.2140-2568C>T | XP_006719066.1:n.2140-2568C>T | |
| XM_011520997.3:c.2971C>T | XP_011519299.1:p.Arg991Ter | |
| XM_011520998.2:c.2971C>T | XP_011519300.1:p.Arg991Ter | |
| XM_011520999.2:c.2971C>T | XP_011519301.1:p.Arg991Ter | |
| XM_011521000.2:c.2971C>T | XP_011519302.1:p.Arg991Ter | |
| XM_011521001.2:c.2971C>T | XP_011519303.1:p.Arg991Ter | |
| XM_011521002.2:c.2971C>T | XP_011519304.1:p.Arg991Ter | |
| XM_011521003.2:c.2971C>T | XP_011519305.1:p.Arg991Ter | |
| XM_011521004.2:c.2971C>T | XP_011519306.1:p.Arg991Ter | |
| XM_011521005.2:c.1750C>T | XP_011519307.1:p.Arg584Ter | |
| XM_011521006.2:c.2139+6427C>T | XP_011519308.1:n.2139+6427C>T | |
| XM_011521007.2:c.2139+6427C>T | XP_011519309.1:n.2139+6427C>T | |
| XM_011521008.2:c.2139+6427C>T | XP_011519310.1:n.2139+6427C>T | |
| XM_011521009.2:c.2139+6427C>T | XP_011519311.1:n.2139+6427C>T | |
| XM_017019834.1:c.2140-2568C>T | XP_016875323.1:n.2140-2568C>T | |
| XM_017019835.1:c.2139+6427C>T | XP_016875324.1:n.2139+6427C>T | |
| XM_017019836.1:c.2139+6427C>T | XP_016875325.1:n.2139+6427C>T | |
| XM_017019837.1:c.2140-2568C>T | XP_016875326.1:n.2140-2568C>T | |
| XM_017019838.1:c.2140-2568C>T | XP_016875327.1:n.2140-2568C>T | |
| XM_017019839.1:c.2139+6427C>T | XP_016875328.1:n.2139+6427C>T | |
| NM_018979.4:c.2140-2568C>T MANE Select | NP_061852.3:n.2140-2568C>T | |
| NM_014823.3:c.2140-2568C>T | NP_055638.2:n.2140-2568C>T | |
| NM_001184985.2:c.2971C>T | NP_001171914.1:p.Arg991Ter | |
| NM_213655.5:c.3226C>T MANE Plus Clinical | NP_998820.3:p.Arg1076Ter |