Linked Data
ClinVar Variation Id:
1791920
ClinVar RCV Id:
RCV002430788
dbSNP Id:
rs141065129
ExAC:
2:21246521 A / G
gnomAD v2:
2-21246521-A-G
gnomAD v3:
2-21023649-A-G
gnomAD v4:
2-21023649-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21023649A>G , CM000664.2:g.21023649A>G | GRCh38 |
| NC_000002.11:g.21246521A>G , CM000664.1:g.21246521A>G | GRCh37 |
| NC_000002.10:g.21100026A>G | NCBI36 |
| NG_011793.1:g.25425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*1786T>C | ENSP00000501110.2:n.*1786T>C | |
| ENST00000673882.2:c.*1786T>C | ENSP00000501253.2:n.*1786T>C | |
| ENST00000673739.1:c.2194T>C | ENSP00000501110.1:n.2194T>C | |
| ENST00000673882.1:c.2194T>C | ENSP00000501253.1:n.2194T>C | |
| ENST00000233242.5:c.2480T>C MANE Select | ENSP00000233242.1:p.Leu827Pro | |
| ENST00000616098.4:c.2480T>C | ENSP00000477990.1:p.Leu827Pro | |
| NM_000384.2:c.2480T>C | NP_000375.2:p.Leu827Pro | |
| XM_011532809.1:c.2480T>C | XP_011531111.1:p.Leu827Pro | |
| NM_000384.3:c.2480T>C MANE Select | NP_000375.3:p.Leu827Pro |