Linked Data
ClinVar Variation Id:
447574
dbSNP Id:
rs7122089
ExAC:
11:68702803 C / G
gnomAD v2:
11-68702803-C-G
gnomAD v3:
11-68935335-C-G
gnomAD v4:
11-68935335-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68935335C>G , CM000673.2:g.68935335C>G | GRCh38 |
| NC_000011.9:g.68702803C>G , CM000673.1:g.68702803C>G | GRCh37 |
| NC_000011.8:g.68459379C>G | NCBI36 |
| NG_007976.1:g.36485C>G , LRG_250:g.36485C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1669C>G MANE Select | ENSP00000255078.4:p.Pro557Ala | |
| ENST00000674955.1:c.*386C>G | ENSP00000502463.1:n.*386C>G | |
| ENST00000675118.1:c.1157C>G | ||
| ENST00000675615.1:c.1669C>G | ENSP00000502413.1:p.Pro557Ala | |
| ENST00000675648.1:n.1044C>G | ||
| ENST00000676173.1:n.2414C>G | ||
| ENST00000676182.1:c.100C>G | ||
| ENST00000676228.1:c.*992C>G | ENSP00000502375.1:n.*992C>G | |
| ENST00000255078.7:c.1669C>G | ENSP00000255078.3:p.Pro557Ala | |
| ENST00000539064.5:n.1428C>G | ||
| ENST00000541229.5:n.364C>G | ||
| ENST00000543739.5:n.749+777C>G | ||
| ENST00000545475.1:n.265C>G | ||
| NM_002180.2:c.1669C>G , LRG_250t1:c.1669C>G | NP_002171.2:p.Pro557Ala | |
| XM_005273974.2:c.658C>G | XP_005274031.1:p.Pro220Ala | |
| XM_005273975.2:c.541C>G | XP_005274032.1:p.Pro181Ala | |
| XM_011544994.1:c.436C>G | XP_011543296.1:p.Pro146Ala | |
| XR_949903.1:n.1771C>G | ||
| XM_005273975.3:c.541C>G | XP_005274032.1:p.Pro181Ala | |
| XM_017017669.2:c.658C>G | XP_016873158.1:p.Pro220Ala | |
| XM_017017670.2:c.658C>G | XP_016873159.1:p.Pro220Ala | |
| XM_017017671.2:c.1637C>G | XP_016873160.1:p.Pro546Arg | |
| XR_949903.3:n.1767C>G | ||
| NM_002180.3:c.1669C>G MANE Select | NP_002171.2:p.Pro557Ala |