Linked Data
ClinVar Variation Id:
749562
ClinVar RCV Id:
RCV000926455
dbSNP Id:
rs765939413
ExAC:
3:70014042 A / T
gnomAD v2:
3-70014042-A-T
gnomAD v3:
3-69964891-A-T
gnomAD v4:
3-69964891-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964891A>T , CM000665.2:g.69964891A>T | GRCh38 |
| NC_000003.11:g.70014042A>T , CM000665.1:g.70014042A>T | GRCh37 |
| NC_000003.10:g.70096732A>T | NCBI36 |
| NG_011631.1:g.230410A>T , LRG_776:g.230410A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314589.11:c.1158A>T | ENSP00000324443.5:p.Pro386= | |
| ENST00000687384.1:c.1155A>T | ENSP00000510225.1:p.Pro385= | |
| ENST00000689390.1:n.1380A>T | ||
| ENST00000693031.1:c.1131A>T | ENSP00000509845.1:p.Pro377= | |
| ENST00000693549.1:c.1114-23A>T | ENSP00000509358.1:n.1114-23A>T | |
| ENST00000314589.10:c.1158A>T | ENSP00000324443.5:p.Pro386= | |
| ENST00000352241.9:c.1224A>T MANE Select | ENSP00000295600.8:p.Pro408= | |
| ENST00000394351.9:c.903A>T MANE Plus Clinical | ENSP00000377880.3:p.Pro301= | |
| ENST00000448226.9:c.1203A>T | ENSP00000391803.3:p.Pro401= | |
| ENST00000642352.1:c.1206A>T | ENSP00000494105.1:p.Pro402= | |
| ENST00000314557.10:c.885A>T | ENSP00000324246.6:p.Pro295= | |
| ENST00000314589.9:c.1158A>T | ENSP00000324443.5:p.Pro386= | |
| ENST00000328528.10:c.1203A>T | ENSP00000327867.6:p.Pro401= | |
| ENST00000352241.8:c.1206A>T | ENSP00000295600.7:p.Pro402= | |
| ENST00000394351.7:c.903A>T | ENSP00000377880.3:p.Pro301= | |
| ENST00000448226.6:c.1224A>T | ENSP00000391803.2:p.Pro408= | |
| ENST00000472437.5:c.1050A>T | ENSP00000418845.1:p.Pro350= | |
| ENST00000478490.5:c.*550A>T | ENSP00000433487.1:n.*550A>T | |
| ENST00000531774.1:c.717A>T | ENSP00000435909.1:p.Pro239= | |
| NM_000248.3:c.903A>T , LRG_776t1:c.903A>T | NP_000239.1:p.Pro301= | |
| NM_001184967.1:c.1050A>T | NP_001171896.1:p.Pro350= | |
| NM_006722.2:c.1203A>T | NP_006713.1:p.Pro401= | |
| NM_198158.2:c.885A>T | NP_937801.1:p.Pro295= | |
| NM_198159.2:c.1206A>T | NP_937802.1:p.Pro402= | |
| NM_198177.2:c.1158A>T | NP_937820.1:p.Pro386= | |
| NM_198178.2:c.717A>T | NP_937821.2:p.Pro239= | |
| XM_005264754.1:c.1224A>T | XP_005264811.1:p.Pro408= | |
| XM_005264755.2:c.1176A>T | XP_005264812.1:p.Pro392= | |
| XM_006713164.2:c.1068A>T | XP_006713227.1:p.Pro356= | |
| XM_011533722.1:c.1221A>T | XP_011532024.1:p.Pro407= | |
| XM_011533723.1:c.1173A>T | XP_011532025.1:p.Pro391= | |
| XM_011533724.1:c.1068A>T | XP_011532026.1:p.Pro356= | |
| XM_011533725.1:c.1056A>T | XP_011532027.1:p.Pro352= | |
| XM_011533726.1:c.1038A>T | XP_011532028.1:p.Pro346= | |
| NM_001354604.1:c.1224A>T | NP_001341533.1:p.Pro408= | |
| NM_001354605.1:c.1221A>T | NP_001341534.1:p.Pro407= | |
| NM_001354606.1:c.1203A>T | NP_001341535.1:p.Pro401= | |
| NM_001354607.1:c.1155A>T | NP_001341536.1:p.Pro385= | |
| NM_001354608.1:c.1050A>T | NP_001341537.1:p.Pro350= | |
| NM_001184967.2:c.1050A>T | NP_001171896.1:p.Pro350= | |
| NM_001354604.2:c.1224A>T MANE Select | NP_001341533.1:p.Pro408= | |
| NM_001354605.2:c.1221A>T | NP_001341534.1:p.Pro407= | |
| NM_001354606.2:c.1203A>T | NP_001341535.1:p.Pro401= | |
| NM_001354607.2:c.1155A>T | NP_001341536.1:p.Pro385= | |
| NM_001354608.2:c.1050A>T | NP_001341537.1:p.Pro350= | |
| NM_198158.3:c.885A>T | NP_937801.1:p.Pro295= | |
| NM_198159.3:c.1206A>T | NP_937802.1:p.Pro402= | |
| NM_198177.3:c.1158A>T | NP_937820.1:p.Pro386= | |
| NM_198178.3:c.717A>T | NP_937821.2:p.Pro239= | |
| NM_000248.4:c.903A>T MANE Plus Clinical | NP_000239.1:p.Pro301= | |
| NM_006722.3:c.1203A>T | NP_006713.1:p.Pro401= |