Linked Data
ClinVar Variation Id:
1691424
ClinVar RCV Id:
RCV002254497
dbSNP Id:
rs1423108738
gnomAD v2:
1-155209547-A-G
gnomAD v4:
1-155239756-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155239756A>G , CM000663.2:g.155239756A>G | GRCh38 |
| NC_000001.10:g.155209547A>G , CM000663.1:g.155209547A>G | GRCh37 |
| NC_000001.9:g.153476171A>G | NCBI36 |
| NG_009783.1:g.9942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.314T>C MANE Select | ENSP00000357357.3:p.Leu105Pro | |
| ENST00000327247.9:c.314T>C | ENSP00000314508.5:p.Leu105Pro | |
| ENST00000368373.7:c.314T>C | ENSP00000357357.3:p.Leu105Pro | |
| ENST00000427500.7:c.307+130T>C | ENSP00000402577.2:n.307+130T>C | |
| ENST00000428024.3:c.53T>C | ENSP00000397986.2:p.Leu18Pro | |
| ENST00000467918.5:n.504T>C | ||
| ENST00000473570.5:n.635T>C | ||
| ENST00000484489.5:n.339+217T>C | ||
| ENST00000493842.5:n.652T>C | ||
| ENST00000497670.5:n.77+130T>C | ||
| NM_000157.3:c.314T>C | NP_000148.2:p.Leu105Pro | |
| NM_001005741.2:c.314T>C | NP_001005741.1:p.Leu105Pro | |
| NM_001005742.2:c.314T>C | NP_001005742.1:p.Leu105Pro | |
| NM_001171811.1:c.53T>C | NP_001165282.1:p.Leu18Pro | |
| NM_001171812.1:c.307+130T>C | NP_001165283.1:n.307+130T>C | |
| XM_006711270.1:c.314T>C | XP_006711333.1:p.Leu105Pro | |
| XM_011509407.1:c.314T>C | XP_011507709.1:p.Leu105Pro | |
| NM_000157.4:c.314T>C MANE Select | NP_000148.2:p.Leu105Pro | |
| NM_001005741.3:c.314T>C | NP_001005741.1:p.Leu105Pro | |
| NM_001005742.3:c.314T>C | NP_001005742.1:p.Leu105Pro | |
| NM_001171811.2:c.53T>C | NP_001165282.1:p.Leu18Pro | |
| NM_001171812.2:c.307+130T>C | NP_001165283.1:n.307+130T>C |