Linked Data
ClinVar Variation Id:
1142281
ClinVar RCV Id:
RCV001480016
dbSNP Id:
rs754683713
ExAC:
17:42152671 C / G
gnomAD v2:
17-42152671-C-G
gnomAD v4:
17-44075303-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075303C>G , CM000679.2:g.44075303C>G | GRCh38 |
| NC_000017.10:g.42152671C>G , CM000679.1:g.42152671C>G | GRCh37 |
| NC_000017.9:g.39508197C>G | NCBI36 |
| NG_015818.1:g.9574C>G , LRG_182:g.9574C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585361.6:c.*373-7C>G | ENSP00000466983.1:n.*373-7C>G | |
| ENST00000588558.6:c.*511-7C>G | ENSP00000467624.1:n.*511-7C>G | |
| ENST00000590253.3:c.417-7C>G | ENSP00000465111.2:n.417-7C>G | |
| ENST00000593115.2:c.*557-7C>G | ENSP00000466821.1:n.*557-7C>G | |
| ENST00000696383.1:c.191-7C>G | ENSP00000512593.1:n.191-7C>G | |
| ENST00000696384.1:c.*96-7C>G | ENSP00000512594.1:n.*96-7C>G | |
| ENST00000696385.1:c.*254-7C>G | ENSP00000512595.1:n.*254-7C>G | |
| ENST00000696386.1:c.219-7C>G | ENSP00000512596.1:n.219-7C>G | |
| ENST00000696387.1:c.*163-7C>G | ENSP00000512597.1:n.*163-7C>G | |
| ENST00000696388.1:c.*382-7C>G | ENSP00000512598.1:n.*382-7C>G | |
| ENST00000696389.1:c.*567-7C>G | ENSP00000512599.1:n.*567-7C>G | |
| ENST00000696390.1:c.326-7C>G | ENSP00000512600.1:n.326-7C>G | |
| ENST00000696391.1:c.*392-7C>G | ENSP00000512601.1:n.*392-7C>G | |
| ENST00000696392.1:c.536-7C>G | ENSP00000512602.1:n.536-7C>G | |
| ENST00000696393.1:c.536-7C>G | ENSP00000512603.1:n.536-7C>G | |
| ENST00000696405.1:c.536-7C>G | ENSP00000512607.1:n.536-7C>G | |
| ENST00000269097.9:c.536-7C>G MANE Select | ENSP00000269097.3:n.536-7C>G | |
| ENST00000269097.8:c.536-7C>G | ENSP00000269097.3:n.536-7C>G | |
| ENST00000585361.5:c.*373-7C>G | ENSP00000466983.1:n.*373-7C>G | |
| ENST00000588558.5:c.*511-7C>G | ENSP00000467624.1:n.*511-7C>G | |
| ENST00000590253.2:c.38-7C>G | ||
| ENST00000590639.1:n.550C>G | ||
| ENST00000591696.1:c.428-7C>G | ENSP00000468677.1:n.428-7C>G | |
| NM_138387.3:c.536-7C>G , LRG_182t1:c.536-7C>G | NP_612396.1:n.536-7C>G | |
| NR_028581.1:n.966-7C>G | ||
| NR_028582.1:n.831-7C>G | ||
| XM_006722179.2:c.417-7C>G | XP_006722242.1:n.417-7C>G | |
| XM_011525473.1:c.191-7C>G | XP_011523775.1:n.191-7C>G | |
| XM_011525474.1:c.191-7C>G | XP_011523776.1:n.191-7C>G | |
| NM_001319945.1:c.417-7C>G | NP_001306874.1:n.417-7C>G | |
| XM_011525473.3:c.191-7C>G | XP_011523775.1:n.191-7C>G | |
| XM_011525474.3:c.191-7C>G | XP_011523776.1:n.191-7C>G | |
| XM_017025335.2:c.191-7C>G | XP_016880824.1:n.191-7C>G | |
| NM_001319945.2:c.417-7C>G | NP_001306874.1:n.417-7C>G | |
| NR_028581.2:n.785-7C>G | ||
| NR_028582.2:n.650-7C>G | ||
| NM_001384165.1:c.191-7C>G | NP_001371094.1:n.191-7C>G | |
| NM_001384166.1:c.191-7C>G | NP_001371095.1:n.191-7C>G | |
| NM_001384167.1:c.191-7C>G | NP_001371096.1:n.191-7C>G | |
| NM_001384168.1:c.191-7C>G | NP_001371097.1:n.191-7C>G | |
| NM_138387.4:c.536-7C>G MANE Select | NP_612396.1:n.536-7C>G |