Linked Data
ClinVar Variation Id:
517377
ClinVar RCV Id:
RCV001548141
dbSNP Id:
rs757588809
ExAC:
11:17615664 T / C
gnomAD v2:
11-17615664-T-C
gnomAD v3:
11-17594117-T-C
gnomAD v4:
11-17594117-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17594117T>C , CM000673.2:g.17594117T>C | GRCh38 |
| NC_000011.9:g.17615664T>C , CM000673.1:g.17615664T>C | GRCh37 |
| NC_000011.8:g.17572240T>C | NCBI36 |
| NG_033191.1:g.51745T>C | |
| NG_033191.2:g.51745T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.3395T>C | ENSP00000382323.2:p.Leu1132Pro | |
| ENST00000399397.6:c.3359T>C MANE Select | ENSP00000382329.2:p.Leu1120Pro | |
| ENST00000342528.2:c.440T>C | ENSP00000341666.2:p.Leu147Pro | |
| ENST00000399391.6:c.3395T>C | ENSP00000382323.2:p.Leu1132Pro | |
| ENST00000399397.5:c.3359T>C | ENSP00000382329.2:p.Leu1120Pro | |
| NM_001277269.1:c.3395T>C | NP_001264198.1:p.Leu1132Pro | |
| NM_001292063.1:c.3359T>C | NP_001278992.1:p.Leu1120Pro | |
| NM_001277269.2:c.3395T>C | NP_001264198.1:p.Leu1132Pro | |
| NM_001292063.2:c.3359T>C MANE Select | NP_001278992.1:p.Leu1120Pro |