Linked Data
ClinVar Variation Id:
1722868
dbSNP Id:
rs1425262191
gnomAD v2:
3-70014311-C-T
gnomAD v4:
3-69965160-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69965160C>T , CM000665.2:g.69965160C>T | GRCh38 |
| NC_000003.11:g.70014311C>T , CM000665.1:g.70014311C>T | GRCh37 |
| NC_000003.10:g.70097001C>T | NCBI36 |
| NG_011631.1:g.230679C>T , LRG_776:g.230679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1427C>T | ENSP00000324443.5:p.Pro476Leu | |
| ENST00000687384.1:c.1424C>T | ENSP00000510225.1:p.Pro475Leu | |
| ENST00000689390.1:n.1649C>T | ||
| ENST00000693031.1:c.1400C>T | ENSP00000509845.1:p.Pro467Leu | |
| ENST00000693549.1:c.*238C>T | ENSP00000509358.1:n.*238C>T | |
| ENST00000314589.10:c.1427C>T | ENSP00000324443.5:p.Pro476Leu | |
| ENST00000352241.9:c.1493C>T MANE Select | ENSP00000295600.8:p.Pro498Leu | |
| ENST00000394351.9:c.1172C>T MANE Plus Clinical | ENSP00000377880.3:p.Pro391Leu | |
| ENST00000448226.9:c.1472C>T | ENSP00000391803.3:p.Pro491Leu | |
| ENST00000642352.1:c.1475C>T | ENSP00000494105.1:p.Pro492Leu | |
| ENST00000314557.10:c.1154C>T | ENSP00000324246.6:p.Pro385Leu | |
| ENST00000314589.9:c.1427C>T | ENSP00000324443.5:p.Pro476Leu | |
| ENST00000328528.10:c.1472C>T | ENSP00000327867.6:p.Pro491Leu | |
| ENST00000352241.8:c.1475C>T | ENSP00000295600.7:p.Pro492Leu | |
| ENST00000394351.7:c.1172C>T | ENSP00000377880.3:p.Pro391Leu | |
| ENST00000448226.6:c.1493C>T | ENSP00000391803.2:p.Pro498Leu | |
| ENST00000472437.5:c.1319C>T | ENSP00000418845.1:p.Pro440Leu | |
| ENST00000478490.5:c.*819C>T | ENSP00000433487.1:n.*819C>T | |
| ENST00000531774.1:c.986C>T | ENSP00000435909.1:p.Pro329Leu | |
| NM_000248.3:c.1172C>T , LRG_776t1:c.1172C>T | NP_000239.1:p.Pro391Leu | |
| NM_001184967.1:c.1319C>T | NP_001171896.1:p.Pro440Leu | |
| NM_006722.2:c.1472C>T | NP_006713.1:p.Pro491Leu | |
| NM_198158.2:c.1154C>T | NP_937801.1:p.Pro385Leu | |
| NM_198159.2:c.1475C>T | NP_937802.1:p.Pro492Leu | |
| NM_198177.2:c.1427C>T | NP_937820.1:p.Pro476Leu | |
| NM_198178.2:c.986C>T | NP_937821.2:p.Pro329Leu | |
| XM_005264754.1:c.1493C>T | XP_005264811.1:p.Pro498Leu | |
| XM_005264755.2:c.1445C>T | XP_005264812.1:p.Pro482Leu | |
| XM_006713164.2:c.1337C>T | XP_006713227.1:p.Pro446Leu | |
| XM_011533722.1:c.1490C>T | XP_011532024.1:p.Pro497Leu | |
| XM_011533723.1:c.1442C>T | XP_011532025.1:p.Pro481Leu | |
| XM_011533724.1:c.1337C>T | XP_011532026.1:p.Pro446Leu | |
| XM_011533725.1:c.1325C>T | XP_011532027.1:p.Pro442Leu | |
| XM_011533726.1:c.1307C>T | XP_011532028.1:p.Pro436Leu | |
| NM_001354604.1:c.1493C>T | NP_001341533.1:p.Pro498Leu | |
| NM_001354605.1:c.1490C>T | NP_001341534.1:p.Pro497Leu | |
| NM_001354606.1:c.1472C>T | NP_001341535.1:p.Pro491Leu | |
| NM_001354607.1:c.1424C>T | NP_001341536.1:p.Pro475Leu | |
| NM_001354608.1:c.1319C>T | NP_001341537.1:p.Pro440Leu | |
| NM_001184967.2:c.1319C>T | NP_001171896.1:p.Pro440Leu | |
| NM_001354604.2:c.1493C>T MANE Select | NP_001341533.1:p.Pro498Leu | |
| NM_001354605.2:c.1490C>T | NP_001341534.1:p.Pro497Leu | |
| NM_001354606.2:c.1472C>T | NP_001341535.1:p.Pro491Leu | |
| NM_001354607.2:c.1424C>T | NP_001341536.1:p.Pro475Leu | |
| NM_001354608.2:c.1319C>T | NP_001341537.1:p.Pro440Leu | |
| NM_198158.3:c.1154C>T | NP_937801.1:p.Pro385Leu | |
| NM_198159.3:c.1475C>T | NP_937802.1:p.Pro492Leu | |
| NM_198177.3:c.1427C>T | NP_937820.1:p.Pro476Leu | |
| NM_198178.3:c.986C>T | NP_937821.2:p.Pro329Leu | |
| NM_000248.4:c.1172C>T MANE Plus Clinical | NP_000239.1:p.Pro391Leu | |
| NM_006722.3:c.1472C>T | NP_006713.1:p.Pro491Leu |