Linked Data
ClinVar Variation Id:
1596832
ClinVar RCV Id:
RCV002127065
dbSNP Id:
rs529201914
ExAC:
9:126139309 C / T
gnomAD v2:
9-126139309-C-T
gnomAD v3:
9-123377030-C-T
gnomAD v4:
9-123377030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377030C>T , CM000671.2:g.123377030C>T | GRCh38 |
| NC_000009.11:g.126139309C>T , CM000671.1:g.126139309C>T | GRCh37 |
| NC_000009.10:g.125179130C>T | NCBI36 |
| NG_051311.1:g.27966C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3826C>T MANE Select | ENSP00000362734.3:p.Leu1276Phe | |
| ENST00000373631.7:c.3826C>T | ENSP00000362734.3:p.Leu1276Phe | |
| ENST00000460253.1:c.2830C>T | ENSP00000435279.1:p.Leu944Phe | |
| NM_173689.6:c.3826C>T | NP_775960.4:p.Leu1276Phe | |
| NR_104603.1:n.2940C>T | ||
| XM_005251934.1:c.2830C>T | XP_005251991.1:p.Leu944Phe | |
| XM_011518556.1:c.3799C>T | XP_011516858.1:p.Leu1267Phe | |
| XM_011518557.1:c.3631C>T | XP_011516859.1:p.Leu1211Phe | |
| XM_011518558.1:c.3631C>T | XP_011516860.1:p.Leu1211Phe | |
| XM_005251934.3:c.2830C>T | XP_005251991.1:p.Leu944Phe | |
| XM_011518556.3:c.3799C>T | XP_011516858.1:p.Leu1267Phe | |
| XM_011518557.3:c.3631C>T | XP_011516859.1:p.Leu1211Phe | |
| XM_011518558.3:c.3631C>T | XP_011516860.1:p.Leu1211Phe | |
| NM_173689.7:c.3826C>T MANE Select | NP_775960.4:p.Leu1276Phe | |
| NR_104603.2:n.2940C>T |