Linked Data
ClinVar Variation Id:
8592
dbSNP Id:
rs121909383
gnomAD v2:
16-56906649-C-T
gnomAD v3:
16-56872737-C-T
gnomAD v4:
16-56872737-C-T
PubMed:
PMID:8528245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56872737C>T , CM000678.2:g.56872737C>T | GRCh38 |
| NC_000016.9:g.56906649C>T , CM000678.1:g.56906649C>T | GRCh37 |
| NC_000016.8:g.55464150C>T | NCBI36 |
| NG_009386.1:g.12531C>T | |
| NG_009386.2:g.12531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.1046C>T MANE Select | ENSP00000456149.2:p.Pro349Leu | |
| ENST00000262502.5:c.1043C>T | ENSP00000262502.5:p.Pro348Leu | |
| ENST00000438926.6:c.1046C>T | ENSP00000402152.2:p.Pro349Leu | |
| ENST00000563236.5:c.1046C>T | ENSP00000456149.1:p.Pro349Leu | |
| ENST00000566786.5:c.1043C>T | ENSP00000457552.1:p.Pro348Leu | |
| NM_000339.2:c.1046C>T | NP_000330.2:p.Pro349Leu | |
| NM_001126107.1:c.1043C>T | NP_001119579.1:p.Pro348Leu | |
| NM_001126108.1:c.1046C>T | NP_001119580.1:p.Pro349Leu | |
| XM_005256119.1:c.1043C>T | XP_005256176.1:p.Pro348Leu | |
| XM_005256119.2:c.1043C>T | XP_005256176.1:p.Pro348Leu | |
| NM_000339.3:c.1046C>T | NP_000330.3:p.Pro349Leu | |
| NM_001126107.2:c.1043C>T | NP_001119579.2:p.Pro348Leu | |
| NM_001126108.2:c.1046C>T MANE Select | NP_001119580.2:p.Pro349Leu |