Linked Data
ClinVar Variation Id:
329322
dbSNP Id:
rs200667255
ExAC:
19:41122891 C / G
gnomAD v2:
19-41122891-C-G
gnomAD v3:
19-40616985-C-G
gnomAD v4:
19-40616985-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40616985C>G , CM000681.2:g.40616985C>G | GRCh38 |
| NC_000019.9:g.41122891C>G , CM000681.1:g.41122891C>G | GRCh37 |
| NC_000019.8:g.45814731C>G | NCBI36 |
| NG_021201.1:g.28820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.2909C>G MANE Select | ENSP00000380031.5:p.Pro970Arg | |
| ENST00000204005.13:c.2999C>G | ENSP00000204005.10:p.Pro1000Arg | |
| ENST00000243562.13:c.1108C>G | ||
| ENST00000308370.11:c.3110C>G | ENSP00000311905.8:p.Pro1037Arg | |
| ENST00000318809.11:n.337-2362C>G | ||
| ENST00000396819.7:c.2909C>G | ENSP00000380031.4:p.Pro970Arg | |
| ENST00000593463.5:c.352C>G | ||
| ENST00000594448.5:n.364C>G | ||
| ENST00000595118.5:n.576-2362C>G | ||
| ENST00000595665.1:n.352C>G | ||
| ENST00000596351.5:n.304-2362C>G | ||
| ENST00000597071.5:c.426C>G | ||
| ENST00000597816.5:n.306-2362C>G | ||
| ENST00000599724.5:c.338-2362C>G | ENSP00000469785.1:n.338-2362C>G | |
| ENST00000600499.5:n.509C>G | ||
| ENST00000601032.5:c.708-2362C>G | ||
| ENST00000601464.5:n.442C>G | ||
| ENST00000610893.4:n.411-115C>G | ||
| ENST00000612121.4:c.444-115C>G | ||
| ENST00000612845.4:n.372-115C>G | ||
| ENST00000617753.4:n.368C>G | ||
| ENST00000618486.4:c.256-115C>G | ||
| ENST00000622107.4:n.272-115C>G | ||
| ENST00000622457.1:c.76C>G | ||
| ENST00000622565.4:n.454-115C>G | ||
| NM_001042544.1:c.3110C>G | NP_001036009.1:p.Pro1037Arg | |
| NM_001042545.1:c.2909C>G | NP_001036010.1:p.Pro970Arg | |
| NM_003573.2:c.2999C>G | NP_003564.2:p.Pro1000Arg | |
| XM_011527376.1:c.3224C>G | XP_011525678.1:p.Pro1075Arg | |
| XM_011527377.1:c.3143C>G | XP_011525679.1:p.Pro1048Arg | |
| XM_011527378.1:c.3143C>G | XP_011525680.1:p.Pro1048Arg | |
| XM_011527379.1:c.3023C>G | XP_011525681.1:p.Pro1008Arg | |
| XM_011527380.1:c.3017C>G | XP_011525682.1:p.Pro1006Arg | |
| XM_011527381.1:c.3143C>G | XP_011525683.1:p.Pro1048Arg | |
| XM_011527382.1:c.2900C>G | XP_011525684.1:p.Pro967Arg | |
| XM_011527383.1:c.3143C>G | XP_011525685.1:p.Pro1048Arg | |
| XM_011527384.1:c.3143C>G | XP_011525686.1:p.Pro1048Arg | |
| XM_011527385.1:c.3047-115C>G | XP_011525687.1:n.3047-115C>G | |
| XM_011527386.1:c.3047-2362C>G | XP_011525688.1:n.3047-2362C>G | |
| XM_011527387.1:c.2501C>G | XP_011525689.1:p.Pro834Arg | |
| XM_011527376.2:c.3224C>G | XP_011525678.1:p.Pro1075Arg | |
| XM_011527377.2:c.3143C>G | XP_011525679.1:p.Pro1048Arg | |
| XM_011527378.2:c.3143C>G | XP_011525680.1:p.Pro1048Arg | |
| XM_011527380.2:c.3017C>G | XP_011525682.1:p.Pro1006Arg | |
| XM_011527381.2:c.3143C>G | XP_011525683.1:p.Pro1048Arg | |
| XM_011527382.2:c.2900C>G | XP_011525684.1:p.Pro967Arg | |
| XM_011527383.2:c.3143C>G | XP_011525685.1:p.Pro1048Arg | |
| XM_011527384.2:c.3143C>G | XP_011525686.1:p.Pro1048Arg | |
| XM_011527385.2:c.3047-115C>G | XP_011525687.1:n.3047-115C>G | |
| XM_011527386.2:c.3047-2362C>G | XP_011525688.1:n.3047-2362C>G | |
| XM_017027352.1:c.3047-115C>G | XP_016882841.1:n.3047-115C>G | |
| XM_017027353.1:c.3047-2362C>G | XP_016882842.1:n.3047-2362C>G | |
| XM_017027354.1:c.3017C>G | XP_016882843.1:p.Pro1006Arg | |
| NM_001042545.2:c.2909C>G MANE Select | NP_001036010.1:p.Pro970Arg |