Linked Data
ClinVar Variation Id:
5583
ClinVar RCV Id:
RCV000005925
dbSNP Id:
rs137853013
gnomAD v2:
3-130688229-C-T
gnomAD v4:
3-130969385-C-T
PubMed:
PMID:10615129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130969385C>T , CM000665.2:g.130969385C>T | GRCh38 |
| NC_000003.11:g.130688229C>T , CM000665.1:g.130688229C>T | GRCh37 |
| NC_000003.10:g.132170919C>T | NCBI36 |
| NG_007379.1:g.79796C>T | |
| NG_007379.2:g.123861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510168.6:c.1402C>T MANE Select | ENSP00000427461.1:p.Arg468Ter | |
| ENST00000328560.12:c.1402C>T | ENSP00000329664.8:p.Arg468Ter | |
| ENST00000359644.7:c.1402C>T | ENSP00000352665.3:p.Arg468Ter | |
| ENST00000422190.6:c.1402C>T | ENSP00000402677.2:p.Arg468Ter | |
| ENST00000428331.6:c.1402C>T | ENSP00000395809.2:p.Arg468Ter | |
| ENST00000504381.5:c.1387C>T | ENSP00000425320.2:p.Arg463Ter | |
| ENST00000504571.5:c.463C>T | ENSP00000422489.1:p.Arg155Ter | |
| ENST00000504612.5:c.1263C>T | ||
| ENST00000504948.5:c.1354C>T | ENSP00000423330.1:p.Arg452Ter | |
| ENST00000505330.5:c.1504C>T | ENSP00000423774.2:p.Arg502Ter | |
| ENST00000507488.6:c.1504C>T | ENSP00000421326.3:p.Arg502Ter | |
| ENST00000508532.5:c.1402C>T | ENSP00000424783.1:p.Arg468Ter | |
| ENST00000508660.5:c.126C>T | ||
| ENST00000510168.5:c.1402C>T | ENSP00000427461.1:p.Arg468Ter | |
| ENST00000513801.5:c.1354C>T | ENSP00000422872.1:p.Arg452Ter | |
| ENST00000514654.5:n.1572C>T | ||
| ENST00000533801.6:c.1402C>T | ENSP00000432956.3:p.Arg468Ter | |
| NM_001001485.2:c.1402C>T | NP_001001485.1:p.Arg468Ter | |
| NM_001001486.1:c.1402C>T | NP_001001486.1:p.Arg468Ter | |
| NM_001001487.1:c.1402C>T | NP_001001487.1:p.Arg468Ter | |
| NM_001199179.1:c.1402C>T | NP_001186108.1:p.Arg468Ter | |
| NM_001199180.1:c.1504C>T | NP_001186109.1:p.Arg502Ter | |
| NM_001199181.1:c.1504C>T | NP_001186110.1:p.Arg502Ter | |
| NM_001199182.1:c.1387C>T | NP_001186111.1:p.Arg463Ter | |
| NM_001199183.1:c.1354C>T | NP_001186112.1:p.Arg452Ter | |
| NM_001199184.1:c.1354C>T | NP_001186113.1:p.Arg452Ter | |
| NM_001199185.1:c.1402C>T | NP_001186114.1:p.Arg468Ter | |
| NM_014382.3:c.1402C>T | NP_055197.2:p.Arg468Ter | |
| XM_005247354.1:c.1504C>T | XP_005247411.1:p.Arg502Ter | |
| XM_005247355.1:c.1402C>T | XP_005247412.1:p.Arg468Ter | |
| XM_005247356.1:c.1402C>T | XP_005247413.1:p.Arg468Ter | |
| XM_005247357.1:c.1402C>T | XP_005247414.1:p.Arg468Ter | |
| XM_005247358.1:c.1354C>T | XP_005247415.1:p.Arg452Ter | |
| XM_006713585.1:c.1402C>T | XP_006713648.1:p.Arg468Ter | |
| XM_011512685.1:c.1504C>T | XP_011510987.1:p.Arg502Ter | |
| XM_011512686.1:c.568C>T | XP_011510988.1:p.Arg190Ter | |
| XM_011512687.1:c.1504C>T | XP_011510989.1:p.Arg502Ter | |
| XM_005247354.2:c.1504C>T | XP_005247411.1:p.Arg502Ter | |
| XM_005247355.2:c.1402C>T | XP_005247412.1:p.Arg468Ter | |
| XM_005247356.3:c.1402C>T | XP_005247413.1:p.Arg468Ter | |
| XM_005247358.3:c.1354C>T | XP_005247415.1:p.Arg452Ter | |
| XM_011512686.2:c.568C>T | XP_011510988.1:p.Arg190Ter | |
| XM_017006164.2:c.1402C>T | XP_016861653.1:p.Arg468Ter | |
| NM_001199179.2:c.1402C>T | NP_001186108.1:p.Arg468Ter | |
| NM_001199180.2:c.1504C>T | NP_001186109.1:p.Arg502Ter | |
| NM_001199181.2:c.1504C>T | NP_001186110.1:p.Arg502Ter | |
| NM_001199182.2:c.1387C>T | NP_001186111.1:p.Arg463Ter | |
| NM_001199183.2:c.1354C>T | NP_001186112.1:p.Arg452Ter | |
| NM_001199184.2:c.1354C>T | NP_001186113.1:p.Arg452Ter | |
| NM_001199185.2:c.1402C>T | NP_001186114.1:p.Arg468Ter | |
| NM_014382.4:c.1402C>T | NP_055197.2:p.Arg468Ter | |
| NM_001001485.3:c.1402C>T | NP_001001485.1:p.Arg468Ter | |
| NM_001001486.2:c.1402C>T | NP_001001486.1:p.Arg468Ter | |
| NM_001001487.2:c.1402C>T | NP_001001487.1:p.Arg468Ter | |
| NM_001199179.3:c.1402C>T | NP_001186108.1:p.Arg468Ter | |
| NM_001199181.3:c.1504C>T | NP_001186110.1:p.Arg502Ter | |
| NM_001199184.3:c.1354C>T | NP_001186113.1:p.Arg452Ter | |
| NM_001378511.1:c.1504C>T | NP_001365440.1:p.Arg502Ter | |
| NM_001378512.1:c.1402C>T | NP_001365441.1:p.Arg468Ter | |
| NM_001378513.1:c.1402C>T | NP_001365442.1:p.Arg468Ter | |
| NM_001378514.1:c.1354C>T | NP_001365443.1:p.Arg452Ter | |
| NM_001378687.1:c.1402C>T MANE Select | NP_001365616.1:p.Arg468Ter | |
| NM_014382.5:c.1402C>T | NP_055197.2:p.Arg468Ter |