Linked Data
ClinVar Variation Id:
689603
dbSNP Id:
rs1284785470
gnomAD v2:
5-140953410-C-A
gnomAD v3:
5-141573843-C-A
gnomAD v4:
5-141573843-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141573843C>A , CM000667.2:g.141573843C>A | GRCh38 |
| NC_000005.9:g.140953410C>A , CM000667.1:g.140953410C>A | GRCh37 |
| NC_000005.8:g.140933594C>A | NCBI36 |
| NG_011594.1:g.50213G>T | |
| NG_011594.2:g.50213G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.2007G>T MANE Select | ENSP00000373706.4:p.Leu669Phe | |
| ENST00000647433.1:c.2007G>T | ENSP00000494675.1:p.Leu669Phe | |
| ENST00000253811.10:c.1875G>T | ENSP00000253811.7:p.Leu625Phe | |
| ENST00000389054.7:c.2007G>T | ENSP00000373706.4:p.Leu669Phe | |
| ENST00000389057.9:c.1980G>T | ENSP00000373709.6:p.Leu660Phe | |
| ENST00000398557.8:c.2007G>T | ENSP00000381565.5:p.Leu669Phe | |
| ENST00000518047.5:c.1980G>T | ENSP00000428268.2:p.Leu660Phe | |
| NM_001079812.2:c.1980G>T | NP_001073280.1:p.Leu660Phe | |
| NM_001314007.1:c.2007G>T | NP_001300936.1:p.Leu669Phe | |
| NM_005219.4:c.2007G>T | NP_005210.3:p.Leu669Phe | |
| XM_011537572.1:c.1971G>T | XP_011535874.1:p.Leu657Phe | |
| XM_011537573.1:c.1941G>T | XP_011535875.1:p.Leu647Phe | |
| XM_024454384.1:c.2007G>T | XP_024310152.1:p.Leu669Phe | |
| XM_024454385.1:c.1980G>T | XP_024310153.1:p.Leu660Phe | |
| XM_024454386.1:c.1971G>T | XP_024310154.1:p.Leu657Phe | |
| XM_024454387.1:c.1941G>T | XP_024310155.1:p.Leu647Phe | |
| NM_005219.5:c.2007G>T MANE Select | NP_005210.3:p.Leu669Phe | |
| NM_001079812.3:c.1980G>T | NP_001073280.1:p.Leu660Phe | |
| NM_001314007.2:c.2007G>T | NP_001300936.1:p.Leu669Phe |