Linked Data
ClinVar Variation Id:
134082
ClinVar RCV Id:
RCV000120753
dbSNP Id:
rs1058808
ExAC:
17:37884037 C / G
gnomAD v2:
17-37884037-C-G
gnomAD v3:
17-39727784-C-G
gnomAD v4:
17-39727784-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727784C>G , CM000679.2:g.39727784C>G | GRCh38 |
| NC_000017.10:g.37884037C>G , CM000679.1:g.37884037C>G | GRCh37 |
| NC_000017.9:g.35137563C>G | NCBI36 |
| NG_007503.1:g.44645C>G , LRG_724:g.44645C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.3508C>G MANE Select | ENSP00000269571.4:p.Pro1170Ala | |
| ENST00000269571.9:c.3508C>G | ENSP00000269571.4:p.Pro1170Ala | |
| ENST00000406381.6:c.3418C>G | ENSP00000385185.2:p.Pro1140Ala | |
| ENST00000445658.6:c.2680C>G | ENSP00000404047.2:p.Pro894Ala | |
| ENST00000541774.5:c.3463C>G | ENSP00000446466.1:p.Pro1155Ala | |
| ENST00000578373.5:c.*3298C>G | ENSP00000463427.1:n.*3298C>G | |
| ENST00000584450.5:c.*87C>G | ENSP00000463714.1:n.*87C>G | |
| ENST00000584601.5:c.3418C>G | ENSP00000462438.1:p.Pro1140Ala | |
| NM_001005862.2:c.3418C>G , LRG_724t1:c.3418C>G | NP_001005862.1:p.Pro1140Ala | |
| NM_001289936.1:c.3463C>G , LRG_724t4:c.3463C>G | NP_001276865.1:p.Pro1155Ala | |
| NM_001289937.1:c.*87C>G | NP_001276866.1:n.*87C>G | |
| NM_004448.3:c.3508C>G , LRG_724t2:c.3508C>G | NP_004439.2:p.Pro1170Ala | |
| NR_110535.1:n.3832C>G | ||
| XM_024450641.1:c.3646C>G | XP_024306409.1:p.Pro1216Ala | |
| XM_024450642.1:c.3601C>G | XP_024306410.1:p.Pro1201Ala | |
| XM_024450643.1:c.3556C>G | XP_024306411.1:p.Pro1186Ala | |
| NM_001005862.3:c.3418C>G | NP_001005862.1:p.Pro1140Ala | |
| NM_001289936.2:c.3463C>G | NP_001276865.1:p.Pro1155Ala | |
| NM_001289937.2:c.*87C>G | NP_001276866.1:n.*87C>G | |
| NM_001382782.1:c.3418C>G | NP_001369711.1:p.Pro1140Ala | |
| NM_001382783.1:c.3418C>G | NP_001369712.1:p.Pro1140Ala | |
| NM_001382784.1:c.3625C>G | NP_001369713.1:p.Pro1209Ala | |
| NM_001382785.1:c.3610C>G | NP_001369714.1:p.Pro1204Ala | |
| NM_001382786.1:c.3589C>G | NP_001369715.1:p.Pro1197Ala | |
| NM_001382787.1:c.3583C>G | NP_001369716.1:p.Pro1195Ala | |
| NM_001382788.1:c.3538C>G | NP_001369717.1:p.Pro1180Ala | |
| NM_001382789.1:c.3529C>G | NP_001369718.1:p.Pro1177Ala | |
| NM_001382790.1:c.3505C>G | NP_001369719.1:p.Pro1169Ala | |
| NM_001382791.1:c.3499C>G | NP_001369720.1:p.Pro1167Ala | |
| NM_001382792.1:c.3472C>G | NP_001369721.1:p.Pro1158Ala | |
| NM_001382793.1:c.3466C>G | NP_001369722.1:p.Pro1156Ala | |
| NM_001382794.1:c.3466C>G | NP_001369723.1:p.Pro1156Ala | |
| NM_001382795.1:c.3460C>G | NP_001369724.1:p.Pro1154Ala | |
| NM_001382796.1:c.3421C>G | NP_001369725.1:p.Pro1141Ala | |
| NM_001382797.1:c.3409C>G | NP_001369726.1:p.Pro1137Ala | |
| NM_001382798.1:c.3352C>G | NP_001369727.1:p.Pro1118Ala | |
| NM_001382799.1:c.3328C>G | NP_001369728.1:p.Pro1110Ala | |
| NM_001382800.1:c.3322C>G | NP_001369729.1:p.Pro1108Ala | |
| NM_001382801.1:c.3304C>G | NP_001369730.1:p.Pro1102Ala | |
| NM_001382802.1:c.3250C>G | NP_001369731.1:p.Pro1084Ala | |
| NM_001382803.1:c.*87C>G | NP_001369732.1:n.*87C>G | |
| NM_001382804.1:c.2680C>G | NP_001369733.1:p.Pro894Ala | |
| NM_001382805.1:c.2557C>G | NP_001369734.1:p.Pro853Ala | |
| NM_001382806.1:c.2470C>G | NP_001369735.1:p.Pro824Ala | |
| NM_004448.4:c.3508C>G MANE Select | NP_004439.2:p.Pro1170Ala | |
| NR_110535.2:n.3746C>G |