Linked Data
ClinVar Variation Id:
371412
ClinVar RCV Id:
RCV003558364
dbSNP Id:
rs1057517252
gnomAD v4:
1-150806780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806780A>G , CM000663.2:g.150806780A>G | GRCh38 |
| NC_000001.10:g.150779256A>G , CM000663.1:g.150779256A>G | GRCh37 |
| NC_000001.9:g.149045880A>G | NCBI36 |
| NG_011848.1:g.6557T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271651.8:c.26T>C MANE Select | ENSP00000271651.3:p.Leu9Pro | |
| ENST00000443913.2:c.203T>C | ENSP00000405083.2:p.Leu68Pro | |
| ENST00000480670.2:n.2634T>C | ||
| ENST00000676680.1:c.26T>C | ENSP00000503270.1:p.Leu9Pro | |
| ENST00000676716.1:c.26T>C | ENSP00000504737.1:p.Leu9Pro | |
| ENST00000676751.1:c.26T>C | ENSP00000502964.1:p.Leu9Pro | |
| ENST00000676824.1:c.26T>C | ENSP00000504176.1:p.Leu9Pro | |
| ENST00000676966.1:c.26T>C | ENSP00000503723.1:p.Leu9Pro | |
| ENST00000676970.1:c.26T>C | ENSP00000503832.1:p.Leu9Pro | |
| ENST00000677330.1:n.1391T>C | ||
| ENST00000677887.1:c.68T>C | ENSP00000503876.1:p.Leu23Pro | |
| ENST00000678275.1:c.26T>C | ENSP00000504796.1:p.Leu9Pro | |
| ENST00000678337.1:c.62T>C | ENSP00000504759.1:p.Leu21Pro | |
| ENST00000678725.1:n.1003T>C | ||
| ENST00000679090.1:n.150T>C | ||
| ENST00000679148.1:n.906T>C | ||
| ENST00000679171.1:n.1926T>C | ||
| ENST00000679260.1:c.26T>C | ENSP00000504534.1:p.Leu9Pro | |
| ENST00000271651.7:c.26T>C | ENSP00000271651.3:p.Leu9Pro | |
| ENST00000443913.1:c.203T>C | ENSP00000405083.1:p.Leu68Pro | |
| NM_000396.3:c.26T>C | NP_000387.1:p.Leu9Pro | |
| NM_000396.4:c.26T>C MANE Select | NP_000387.1:p.Leu9Pro |