Linked Data
ClinVar Variation Id:
2721427
dbSNP Id:
rs1002403677
gnomAD v2:
3-9517384-C-T
gnomAD v3:
3-9475700-C-T
gnomAD v4:
3-9475700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9475700C>T , CM000665.2:g.9475700C>T | GRCh38 |
| NC_000003.11:g.9517384C>T , CM000665.1:g.9517384C>T | GRCh37 |
| NC_000003.10:g.9492384C>T | NCBI36 |
| NG_034132.1:g.83001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682236.1:n.2893C>T | ||
| ENST00000682536.1:c.4034C>T | ENSP00000507956.1:p.Pro1345Leu | |
| ENST00000687014.1:n.4927C>T | ||
| ENST00000689167.1:n.2318C>T | ||
| ENST00000693430.1:n.6180C>T | ||
| ENST00000402198.7:c.3938C>T MANE Select | ENSP00000385852.2:p.Pro1313Leu | |
| ENST00000663774.1:c.*4084C>T | ENSP00000499452.1:n.*4084C>T | |
| ENST00000665872.1:c.*4007C>T | ENSP00000499600.1:n.*4007C>T | |
| ENST00000666307.1:c.*4312C>T | ENSP00000499402.1:n.*4312C>T | |
| ENST00000670063.1:c.*4043C>T | ENSP00000499725.1:n.*4043C>T | |
| ENST00000302463.10:c.3644C>T | ENSP00000302028.6:p.Pro1215Leu | |
| ENST00000399686.6:c.2722+544C>T | ||
| ENST00000402198.5:c.3938C>T | ENSP00000385852.1:p.Pro1313Leu | |
| ENST00000406341.5:c.3938C>T | ENSP00000383939.1:p.Pro1313Leu | |
| ENST00000407969.5:c.3995C>T | ENSP00000384114.1:p.Pro1332Leu | |
| ENST00000413704.5:c.2974C>T | ||
| ENST00000459941.1:n.1069C>T | ||
| ENST00000466242.5:n.3279C>T | ||
| ENST00000493918.5:n.4102C>T | ||
| NM_001080517.2:c.3938C>T | NP_001073986.1:p.Pro1313Leu | |
| NM_001292043.1:c.3644C>T | NP_001278972.1:p.Pro1215Leu | |
| XM_005265301.1:c.3995C>T | XP_005265358.1:p.Pro1332Leu | |
| XM_005265303.1:c.3938C>T | XP_005265360.1:p.Pro1313Leu | |
| XM_011533920.1:c.4112C>T | XP_011532222.1:p.Pro1371Leu | |
| XM_011533921.1:c.4112C>T | XP_011532223.1:p.Pro1371Leu | |
| XM_011533922.1:c.4091C>T | XP_011532224.1:p.Pro1364Leu | |
| XM_011533923.1:c.4091C>T | XP_011532225.1:p.Pro1364Leu | |
| XM_011533924.1:c.4091C>T | XP_011532226.1:p.Pro1364Leu | |
| XM_011533925.1:c.4073C>T | XP_011532227.1:p.Pro1358Leu | |
| XM_011533926.1:c.4055C>T | XP_011532228.1:p.Pro1352Leu | |
| XM_011533927.1:c.4055C>T | XP_011532229.1:p.Pro1352Leu | |
| XM_011533928.1:c.4034C>T | XP_011532230.1:p.Pro1345Leu | |
| XM_011533929.1:c.4016C>T | XP_011532231.1:p.Pro1339Leu | |
| XM_011533930.1:c.3977C>T | XP_011532232.1:p.Pro1326Leu | |
| XM_011533931.1:c.3701C>T | XP_011532233.1:p.Pro1234Leu | |
| XM_011533932.1:c.3662C>T | XP_011532234.1:p.Pro1221Leu | |
| XM_011533933.1:c.3662C>T | XP_011532235.1:p.Pro1221Leu | |
| NM_001349451.1:c.3644C>T | NP_001336380.1:p.Pro1215Leu | |
| XM_011533921.2:c.4112C>T | XP_011532223.1:p.Pro1371Leu | |
| XM_017006767.1:c.4112C>T | XP_016862256.1:p.Pro1371Leu | |
| XM_017006768.2:c.4091C>T | XP_016862257.1:p.Pro1364Leu | |
| XM_017006770.1:c.4055C>T | XP_016862259.1:p.Pro1352Leu | |
| XM_017006771.1:c.4052C>T | XP_016862260.1:p.Pro1351Leu | |
| XM_017006772.1:c.4016C>T | XP_016862261.1:p.Pro1339Leu | |
| XM_017006773.1:c.4016C>T | XP_016862262.1:p.Pro1339Leu | |
| XM_017006774.1:c.3995C>T | XP_016862263.1:p.Pro1332Leu | |
| XM_017006775.1:c.3959C>T | XP_016862264.1:p.Pro1320Leu | |
| XM_017006776.1:c.3701C>T | XP_016862265.1:p.Pro1234Leu | |
| XM_017006777.1:c.3701C>T | XP_016862266.1:p.Pro1234Leu | |
| XM_017006778.1:c.3701C>T | XP_016862267.1:p.Pro1234Leu | |
| XM_017006779.1:c.3662C>T | XP_016862268.1:p.Pro1221Leu | |
| XM_017006780.1:c.3662C>T | XP_016862269.1:p.Pro1221Leu | |
| XM_017006783.1:c.3434C>T | XP_016862272.1:p.Pro1145Leu | |
| XM_024453620.1:c.4073C>T | XP_024309388.1:p.Pro1358Leu | |
| XM_024453621.1:c.3749C>T | XP_024309389.1:p.Pro1250Leu | |
| XR_001740195.2:n.8321C>T | ||
| NM_001080517.3:c.3938C>T MANE Select | NP_001073986.1:p.Pro1313Leu | |
| NM_001292043.2:c.3644C>T | NP_001278972.1:p.Pro1215Leu | |
| NM_001349451.2:c.3644C>T | NP_001336380.1:p.Pro1215Leu |