Linked Data
ClinVar Variation Id:
1733674
ClinVar RCV Id:
RCV002452548
dbSNP Id:
rs1241311366
gnomAD v2:
5-172660182-A-G
gnomAD v3:
5-173233179-A-G
gnomAD v4:
5-173233179-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173233179A>G , CM000667.2:g.173233179A>G | GRCh38 |
| NC_000005.9:g.172660182A>G , CM000667.1:g.172660182A>G | GRCh37 |
| NC_000005.8:g.172592788A>G | NCBI36 |
| NG_013340.1:g.7134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.365T>C MANE Select | ENSP00000327758.4:p.Leu122Pro | |
| ENST00000329198.4:c.365T>C | ENSP00000327758.4:p.Leu122Pro | |
| ENST00000424406.2:c.*318T>C | ENSP00000395378.2:n.*318T>C | |
| ENST00000521848.1:c.*164T>C | ENSP00000427906.1:n.*164T>C | |
| NM_001166175.1:c.*318T>C | NP_001159647.1:n.*318T>C | |
| NM_001166176.1:c.*164T>C | NP_001159648.1:n.*164T>C | |
| NM_004387.3:c.365T>C | NP_004378.1:p.Leu122Pro | |
| NM_004387.4:c.365T>C MANE Select | NP_004378.1:p.Leu122Pro | |
| NM_001166175.2:c.*318T>C | NP_001159647.1:n.*318T>C | |
| NM_001166176.2:c.*164T>C | NP_001159648.1:n.*164T>C |