Linked Data
ClinVar Variation Id:
68065
ClinVar RCV Id:
RCV000058869
dbSNP Id:
rs151344630
gnomAD v4:
4-122742215-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742215C>G , CM000666.2:g.122742215C>G | GRCh38 |
| NC_000004.11:g.123663370C>G , CM000666.1:g.123663370C>G | GRCh37 |
| NC_000004.10:g.123882820C>G | NCBI36 |
| NG_021203.1:g.14514C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.323C>G MANE Select | ENSP00000319062.3:p.Pro108Arg | |
| ENST00000314218.7:c.323C>G | ENSP00000319062.3:p.Pro108Arg | |
| ENST00000433287.1:c.323C>G | ENSP00000398912.1:p.Pro108Arg | |
| ENST00000542236.5:c.323C>G | ENSP00000438273.1:p.Pro108Arg | |
| NM_001178007.1:c.323C>G | NP_001171478.1:p.Pro108Arg | |
| NM_152618.2:c.323C>G | NP_689831.2:p.Pro108Arg | |
| XM_011531680.1:c.323C>G | XP_011529982.1:p.Pro108Arg | |
| XM_011531680.2:c.323C>G | XP_011529982.1:p.Pro108Arg | |
| XM_017007831.1:c.323C>G | XP_016863320.1:p.Pro108Arg | |
| NM_152618.3:c.323C>G MANE Select | NP_689831.2:p.Pro108Arg | |
| NM_001178007.2:c.323C>G | NP_001171478.1:p.Pro108Arg |