Linked Data
dbSNP Id:
rs760840457
ExAC:
1:226125316 G / C
gnomAD v2:
1-226125316-G-C
gnomAD v4:
1-225937616-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225937616G>C , CM000663.2:g.225937616G>C | GRCh38 |
| NC_000001.10:g.226125316G>C , CM000663.1:g.226125316G>C | GRCh37 |
| NC_000001.9:g.224191939G>C | NCBI36 |
| NG_008118.1:g.8605C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366820.10:c.926C>G MANE Select | ENSP00000355785.5:p.Pro309Arg | |
| ENST00000366820.9:c.926C>G | ENSP00000355785.5:p.Pro309Arg | |
| ENST00000420304.6:c.824C>G | ENSP00000388009.2:p.Pro275Arg | |
| ENST00000616737.1:c.926C>G | ENSP00000484300.1:p.Pro309Arg | |
| NM_001172425.1:c.824C>G | NP_001165896.1:p.Pro275Arg | |
| NM_003240.3:c.926C>G | NP_003231.2:p.Pro309Arg | |
| NM_001172425.2:c.824C>G | NP_001165896.1:p.Pro275Arg | |
| NM_003240.4:c.926C>G | NP_003231.2:p.Pro309Arg | |
| NM_003240.5:c.926C>G MANE Select | NP_003231.2:p.Pro309Arg | |
| NM_001172425.3:c.824C>G | NP_001165896.1:p.Pro275Arg |