Linked Data
ClinVar Variation Id:
8595
dbSNP Id:
rs121909385
gnomAD v2:
16-56919219-T-C
gnomAD v4:
16-56885307-T-C
PubMed:
PMID:8954067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56885307T>C , CM000678.2:g.56885307T>C | GRCh38 |
| NC_000016.9:g.56919219T>C , CM000678.1:g.56919219T>C | GRCh37 |
| NC_000016.8:g.55476720T>C | NCBI36 |
| NG_009386.1:g.25101T>C | |
| NG_009386.2:g.25101T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.1868T>C MANE Select | ENSP00000456149.2:p.Leu623Pro | |
| ENST00000262502.5:c.1865T>C | ENSP00000262502.5:p.Leu622Pro | |
| ENST00000438926.6:c.1868T>C | ENSP00000402152.2:p.Leu623Pro | |
| ENST00000563236.5:c.1868T>C | ENSP00000456149.1:p.Leu623Pro | |
| ENST00000566786.5:c.1865T>C | ENSP00000457552.1:p.Leu622Pro | |
| NM_000339.2:c.1868T>C | NP_000330.2:p.Leu623Pro | |
| NM_001126107.1:c.1865T>C | NP_001119579.1:p.Leu622Pro | |
| NM_001126108.1:c.1868T>C | NP_001119580.1:p.Leu623Pro | |
| XM_005256119.1:c.1865T>C | XP_005256176.1:p.Leu622Pro | |
| XM_005256119.2:c.1865T>C | XP_005256176.1:p.Leu622Pro | |
| NM_000339.3:c.1868T>C | NP_000330.3:p.Leu623Pro | |
| NM_001126107.2:c.1865T>C | NP_001119579.2:p.Leu622Pro | |
| NM_001126108.2:c.1868T>C MANE Select | NP_001119580.2:p.Leu623Pro |