Linked Data
ClinVar Variation Id:
2574331
ClinVar RCV Id:
RCV003318913
dbSNP Id:
rs1570538685
gnomAD v3:
1-26696702-T-C
gnomAD v4:
1-26696702-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696702T>C , CM000663.2:g.26696702T>C | GRCh38 |
| NC_000001.10:g.27023193T>C , CM000663.1:g.27023193T>C | GRCh37 |
| NC_000001.9:g.26895780T>C | NCBI36 |
| NG_029965.1:g.5672T>C , LRG_875:g.5672T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.299T>C MANE Select | ENSP00000320485.7:p.Leu100Pro | |
| ENST00000430799.7:c.-13+3085T>C | ENSP00000390317.3:n.-13+3085T>C | |
| ENST00000637465.1:c.-13+602T>C | ENSP00000490650.1:n.-13+602T>C | |
| ENST00000324856.11:c.299T>C | ENSP00000320485.7:p.Leu100Pro | |
| ENST00000457599.6:c.299T>C | ENSP00000387636.2:p.Leu100Pro | |
| NM_006015.4:c.299T>C , LRG_875t1:c.299T>C | NP_006006.3:p.Leu100Pro | |
| NM_139135.2:c.299T>C | NP_624361.1:p.Leu100Pro | |
| NM_006015.5:c.299T>C | NP_006006.3:p.Leu100Pro | |
| NM_139135.3:c.299T>C | NP_624361.1:p.Leu100Pro | |
| NM_006015.6:c.299T>C MANE Select | NP_006006.3:p.Leu100Pro | |
| NM_139135.4:c.299T>C | NP_624361.1:p.Leu100Pro |