Linked Data
ClinVar Variation Id:
223032
ClinVar RCV Id:
RCV000208713
dbSNP Id:
rs1064792866
gnomAD v4:
22-50527704-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50527704A>G , CM000684.2:g.50527704A>G | GRCh38 |
| NC_000022.10:g.50966133A>G , CM000684.1:g.50966133A>G | GRCh37 |
| NC_000022.9:g.49312999A>G | NCBI36 |
| NG_011860.1:g.7382T>C , LRG_727:g.7382T>C | |
| NG_016235.1:g.3736T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.530T>C MANE Select | ENSP00000252029.3:p.Leu177Pro | |
| ENST00000395680.6:c.530T>C | ENSP00000379037.1:p.Leu177Pro | |
| ENST00000395681.6:c.530T>C | ENSP00000379038.1:p.Leu177Pro | |
| ENST00000650719.1:c.530T>C | ENSP00000498276.1:p.Leu177Pro | |
| ENST00000651401.1:c.14T>C | ENSP00000499115.1:p.Leu5Pro | |
| ENST00000651906.1:n.649T>C | ||
| ENST00000652352.1:c.241T>C | ENSP00000498579.1:p.Trp81Arg | |
| ENST00000252029.7:c.530T>C | ENSP00000252029.3:p.Leu177Pro | |
| ENST00000395678.7:c.530T>C | ENSP00000379036.3:p.Leu177Pro | |
| ENST00000395680.5:c.530T>C | ENSP00000379037.1:p.Leu177Pro | |
| ENST00000395681.5:c.530T>C | ENSP00000379038.1:p.Leu177Pro | |
| ENST00000425169.1:c.431T>C | ENSP00000395875.1:p.Leu144Pro | |
| ENST00000476284.1:n.655T>C | ||
| ENST00000487577.5:n.817T>C | ||
| NM_001113755.2:c.530T>C | NP_001107227.1:p.Leu177Pro | |
| NM_001113756.2:c.530T>C | NP_001107228.1:p.Leu177Pro | |
| NM_001257988.1:c.530T>C , LRG_727t1:c.530T>C | NP_001244917.1:p.Leu177Pro | |
| NM_001257989.1:c.530T>C , LRG_727t2:c.530T>C | NP_001244918.1:p.Leu177Pro | |
| NM_001953.4:c.530T>C | NP_001944.1:p.Leu177Pro | |
| NM_001113755.3:c.530T>C | NP_001107227.1:p.Leu177Pro | |
| NM_001113756.3:c.530T>C | NP_001107228.1:p.Leu177Pro | |
| NM_001953.5:c.530T>C MANE Select | NP_001944.1:p.Leu177Pro |