Linked Data
dbSNP Id:
rs1672180750
gnomAD v4:
1-225937510-G-A
MyVariant Identifiers:
chr1:g.226125210G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225937510G>A , CM000663.2:g.225937510G>A | GRCh38 |
| NC_000001.10:g.226125210G>A , CM000663.1:g.226125210G>A | GRCh37 |
| NC_000001.9:g.224191833G>A | NCBI36 |
| NG_008118.1:g.8711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366820.10:c.1032C>T MANE Select | ENSP00000355785.5:p.Pro344= | |
| ENST00000366820.9:c.1032C>T | ENSP00000355785.5:p.Pro344= | |
| ENST00000420304.6:c.930C>T | ENSP00000388009.2:p.Pro310= | |
| ENST00000616737.1:c.1032C>T | ENSP00000484300.1:p.Pro344= | |
| NM_001172425.1:c.930C>T | NP_001165896.1:p.Pro310= | |
| NM_003240.3:c.1032C>T | NP_003231.2:p.Pro344= | |
| NM_001172425.2:c.930C>T | NP_001165896.1:p.Pro310= | |
| NM_003240.4:c.1032C>T | NP_003231.2:p.Pro344= | |
| NM_003240.5:c.1032C>T MANE Select | NP_003231.2:p.Pro344= | |
| NM_001172425.3:c.930C>T | NP_001165896.1:p.Pro310= |