Linked Data
dbSNP Id:
rs1158728815
gnomAD v2:
17-42153110-C-T
gnomAD v3:
17-44075742-C-T
gnomAD v4:
17-44075742-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075742C>T , CM000679.2:g.44075742C>T | GRCh38 |
| NC_000017.10:g.42153110C>T , CM000679.1:g.42153110C>T | GRCh37 |
| NC_000017.9:g.39508636C>T | NCBI36 |
| NG_015818.1:g.10013C>T , LRG_182:g.10013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585361.6:c.*577C>T | ENSP00000466983.1:n.*577C>T | |
| ENST00000588558.6:c.*715C>T | ENSP00000467624.1:n.*715C>T | |
| ENST00000590253.3:c.*33C>T | ENSP00000465111.2:n.*33C>T | |
| ENST00000593115.2:c.*761C>T | ENSP00000466821.1:n.*761C>T | |
| ENST00000696383.1:c.395C>T | ENSP00000512593.1:p.Pro132Leu | |
| ENST00000696384.1:c.*300C>T | ENSP00000512594.1:n.*300C>T | |
| ENST00000696385.1:c.*458C>T | ENSP00000512595.1:n.*458C>T | |
| ENST00000696386.1:c.*33C>T | ENSP00000512596.1:n.*33C>T | |
| ENST00000696387.1:c.*367C>T | ENSP00000512597.1:n.*367C>T | |
| ENST00000696388.1:c.*586C>T | ENSP00000512598.1:n.*586C>T | |
| ENST00000696389.1:c.*771C>T | ENSP00000512599.1:n.*771C>T | |
| ENST00000696390.1:c.530C>T | ENSP00000512600.1:p.Pro177Leu | |
| ENST00000696391.1:c.*596C>T | ENSP00000512601.1:n.*596C>T | |
| ENST00000696392.1:c.740C>T | ENSP00000512602.1:p.Pro247Leu | |
| ENST00000696393.1:c.740C>T | ENSP00000512603.1:p.Pro247Leu | |
| ENST00000696405.1:c.677+291C>T | ENSP00000512607.1:n.677+291C>T | |
| ENST00000269097.9:c.740C>T MANE Select | ENSP00000269097.3:p.Pro247Leu | |
| ENST00000269097.8:c.740C>T | ENSP00000269097.3:p.Pro247Leu | |
| ENST00000585361.5:c.*577C>T | ENSP00000466983.1:n.*577C>T | |
| ENST00000588558.5:c.*715C>T | ENSP00000467624.1:n.*715C>T | |
| ENST00000590253.2:c.242C>T | ||
| ENST00000590639.1:n.761C>T | ||
| ENST00000591696.1:c.632C>T | ENSP00000468677.1:p.Pro211Leu | |
| NM_138387.3:c.740C>T , LRG_182t1:c.740C>T | NP_612396.1:p.Pro247Leu | |
| NR_028581.1:n.1170C>T | ||
| NR_028582.1:n.1035C>T | ||
| XM_011525473.1:c.395C>T | XP_011523775.1:p.Pro132Leu | |
| XM_011525474.1:c.395C>T | XP_011523776.1:p.Pro132Leu | |
| NM_001319945.1:c.*33C>T | NP_001306874.1:n.*33C>T | |
| XM_011525473.3:c.395C>T | XP_011523775.1:p.Pro132Leu | |
| XM_011525474.3:c.395C>T | XP_011523776.1:p.Pro132Leu | |
| XM_017025335.2:c.395C>T | XP_016880824.1:p.Pro132Leu | |
| NM_001319945.2:c.*33C>T | NP_001306874.1:n.*33C>T | |
| NR_028581.2:n.989C>T | ||
| NR_028582.2:n.854C>T | ||
| NM_001384165.1:c.395C>T | NP_001371094.1:p.Pro132Leu | |
| NM_001384166.1:c.395C>T | NP_001371095.1:p.Pro132Leu | |
| NM_001384167.1:c.395C>T | NP_001371096.1:p.Pro132Leu | |
| NM_001384168.1:c.395C>T | NP_001371097.1:p.Pro132Leu | |
| NM_138387.4:c.740C>T MANE Select | NP_612396.1:p.Pro247Leu |