Linked Data
dbSNP Id:
rs750479971
ExAC:
3:70014100 C / A
gnomAD v2:
3-70014100-C-A
gnomAD v4:
3-69964949-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964949C>A , CM000665.2:g.69964949C>A | GRCh38 |
| NC_000003.11:g.70014100C>A , CM000665.1:g.70014100C>A | GRCh37 |
| NC_000003.10:g.70096790C>A | NCBI36 |
| NG_011631.1:g.230468C>A , LRG_776:g.230468C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1216C>A | ENSP00000324443.5:p.Leu406Ile | |
| ENST00000687384.1:c.1213C>A | ENSP00000510225.1:p.Leu405Ile | |
| ENST00000689390.1:n.1438C>A | ||
| ENST00000693031.1:c.1189C>A | ENSP00000509845.1:p.Leu397Ile | |
| ENST00000693549.1:c.*27C>A | ENSP00000509358.1:n.*27C>A | |
| ENST00000314589.10:c.1216C>A | ENSP00000324443.5:p.Leu406Ile | |
| ENST00000352241.9:c.1282C>A MANE Select | ENSP00000295600.8:p.Leu428Ile | |
| ENST00000394351.9:c.961C>A MANE Plus Clinical | ENSP00000377880.3:p.Leu321Ile | |
| ENST00000448226.9:c.1261C>A | ENSP00000391803.3:p.Leu421Ile | |
| ENST00000642352.1:c.1264C>A | ENSP00000494105.1:p.Leu422Ile | |
| ENST00000314557.10:c.943C>A | ENSP00000324246.6:p.Leu315Ile | |
| ENST00000314589.9:c.1216C>A | ENSP00000324443.5:p.Leu406Ile | |
| ENST00000328528.10:c.1261C>A | ENSP00000327867.6:p.Leu421Ile | |
| ENST00000352241.8:c.1264C>A | ENSP00000295600.7:p.Leu422Ile | |
| ENST00000394351.7:c.961C>A | ENSP00000377880.3:p.Leu321Ile | |
| ENST00000448226.6:c.1282C>A | ENSP00000391803.2:p.Leu428Ile | |
| ENST00000472437.5:c.1108C>A | ENSP00000418845.1:p.Leu370Ile | |
| ENST00000478490.5:c.*608C>A | ENSP00000433487.1:n.*608C>A | |
| ENST00000531774.1:c.775C>A | ENSP00000435909.1:p.Leu259Ile | |
| NM_000248.3:c.961C>A , LRG_776t1:c.961C>A | NP_000239.1:p.Leu321Ile | |
| NM_001184967.1:c.1108C>A | NP_001171896.1:p.Leu370Ile | |
| NM_006722.2:c.1261C>A | NP_006713.1:p.Leu421Ile | |
| NM_198158.2:c.943C>A | NP_937801.1:p.Leu315Ile | |
| NM_198159.2:c.1264C>A | NP_937802.1:p.Leu422Ile | |
| NM_198177.2:c.1216C>A | NP_937820.1:p.Leu406Ile | |
| NM_198178.2:c.775C>A | NP_937821.2:p.Leu259Ile | |
| XM_005264754.1:c.1282C>A | XP_005264811.1:p.Leu428Ile | |
| XM_005264755.2:c.1234C>A | XP_005264812.1:p.Leu412Ile | |
| XM_006713164.2:c.1126C>A | XP_006713227.1:p.Leu376Ile | |
| XM_011533722.1:c.1279C>A | XP_011532024.1:p.Leu427Ile | |
| XM_011533723.1:c.1231C>A | XP_011532025.1:p.Leu411Ile | |
| XM_011533724.1:c.1126C>A | XP_011532026.1:p.Leu376Ile | |
| XM_011533725.1:c.1114C>A | XP_011532027.1:p.Leu372Ile | |
| XM_011533726.1:c.1096C>A | XP_011532028.1:p.Leu366Ile | |
| NM_001354604.1:c.1282C>A | NP_001341533.1:p.Leu428Ile | |
| NM_001354605.1:c.1279C>A | NP_001341534.1:p.Leu427Ile | |
| NM_001354606.1:c.1261C>A | NP_001341535.1:p.Leu421Ile | |
| NM_001354607.1:c.1213C>A | NP_001341536.1:p.Leu405Ile | |
| NM_001354608.1:c.1108C>A | NP_001341537.1:p.Leu370Ile | |
| NM_001184967.2:c.1108C>A | NP_001171896.1:p.Leu370Ile | |
| NM_001354604.2:c.1282C>A MANE Select | NP_001341533.1:p.Leu428Ile | |
| NM_001354605.2:c.1279C>A | NP_001341534.1:p.Leu427Ile | |
| NM_001354606.2:c.1261C>A | NP_001341535.1:p.Leu421Ile | |
| NM_001354607.2:c.1213C>A | NP_001341536.1:p.Leu405Ile | |
| NM_001354608.2:c.1108C>A | NP_001341537.1:p.Leu370Ile | |
| NM_198158.3:c.943C>A | NP_937801.1:p.Leu315Ile | |
| NM_198159.3:c.1264C>A | NP_937802.1:p.Leu422Ile | |
| NM_198177.3:c.1216C>A | NP_937820.1:p.Leu406Ile | |
| NM_198178.3:c.775C>A | NP_937821.2:p.Leu259Ile | |
| NM_000248.4:c.961C>A MANE Plus Clinical | NP_000239.1:p.Leu321Ile | |
| NM_006722.3:c.1261C>A | NP_006713.1:p.Leu421Ile |