Linked Data
ClinVar Variation Id:
1379204
ClinVar RCV Id:
RCV001883649
dbSNP Id:
rs1158728815
gnomAD v4:
17-44075742-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075742C>G , CM000679.2:g.44075742C>G | GRCh38 |
| NC_000017.10:g.42153110C>G , CM000679.1:g.42153110C>G | GRCh37 |
| NC_000017.9:g.39508636C>G | NCBI36 |
| NG_015818.1:g.10013C>G , LRG_182:g.10013C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585361.6:c.*577C>G | ENSP00000466983.1:n.*577C>G | |
| ENST00000588558.6:c.*715C>G | ENSP00000467624.1:n.*715C>G | |
| ENST00000590253.3:c.*33C>G | ENSP00000465111.2:n.*33C>G | |
| ENST00000593115.2:c.*761C>G | ENSP00000466821.1:n.*761C>G | |
| ENST00000696383.1:c.395C>G | ENSP00000512593.1:p.Pro132Arg | |
| ENST00000696384.1:c.*300C>G | ENSP00000512594.1:n.*300C>G | |
| ENST00000696385.1:c.*458C>G | ENSP00000512595.1:n.*458C>G | |
| ENST00000696386.1:c.*33C>G | ENSP00000512596.1:n.*33C>G | |
| ENST00000696387.1:c.*367C>G | ENSP00000512597.1:n.*367C>G | |
| ENST00000696388.1:c.*586C>G | ENSP00000512598.1:n.*586C>G | |
| ENST00000696389.1:c.*771C>G | ENSP00000512599.1:n.*771C>G | |
| ENST00000696390.1:c.530C>G | ENSP00000512600.1:p.Pro177Arg | |
| ENST00000696391.1:c.*596C>G | ENSP00000512601.1:n.*596C>G | |
| ENST00000696392.1:c.740C>G | ENSP00000512602.1:p.Pro247Arg | |
| ENST00000696393.1:c.740C>G | ENSP00000512603.1:p.Pro247Arg | |
| ENST00000696405.1:c.677+291C>G | ENSP00000512607.1:n.677+291C>G | |
| ENST00000269097.9:c.740C>G MANE Select | ENSP00000269097.3:p.Pro247Arg | |
| ENST00000269097.8:c.740C>G | ENSP00000269097.3:p.Pro247Arg | |
| ENST00000585361.5:c.*577C>G | ENSP00000466983.1:n.*577C>G | |
| ENST00000588558.5:c.*715C>G | ENSP00000467624.1:n.*715C>G | |
| ENST00000590253.2:c.242C>G | ||
| ENST00000590639.1:n.761C>G | ||
| ENST00000591696.1:c.632C>G | ENSP00000468677.1:p.Pro211Arg | |
| NM_138387.3:c.740C>G , LRG_182t1:c.740C>G | NP_612396.1:p.Pro247Arg | |
| NR_028581.1:n.1170C>G | ||
| NR_028582.1:n.1035C>G | ||
| XM_011525473.1:c.395C>G | XP_011523775.1:p.Pro132Arg | |
| XM_011525474.1:c.395C>G | XP_011523776.1:p.Pro132Arg | |
| NM_001319945.1:c.*33C>G | NP_001306874.1:n.*33C>G | |
| XM_011525473.3:c.395C>G | XP_011523775.1:p.Pro132Arg | |
| XM_011525474.3:c.395C>G | XP_011523776.1:p.Pro132Arg | |
| XM_017025335.2:c.395C>G | XP_016880824.1:p.Pro132Arg | |
| NM_001319945.2:c.*33C>G | NP_001306874.1:n.*33C>G | |
| NR_028581.2:n.989C>G | ||
| NR_028582.2:n.854C>G | ||
| NM_001384165.1:c.395C>G | NP_001371094.1:p.Pro132Arg | |
| NM_001384166.1:c.395C>G | NP_001371095.1:p.Pro132Arg | |
| NM_001384167.1:c.395C>G | NP_001371096.1:p.Pro132Arg | |
| NM_001384168.1:c.395C>G | NP_001371097.1:p.Pro132Arg | |
| NM_138387.4:c.740C>G MANE Select | NP_612396.1:p.Pro247Arg |