Linked Data
ClinVar Variation Id:
2798760
ClinVar RCV Id:
RCV003600843
dbSNP Id:
rs894217104
gnomAD v2:
17-42152664-C-T
gnomAD v3:
17-44075296-C-T
gnomAD v4:
17-44075296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075296C>T , CM000679.2:g.44075296C>T | GRCh38 |
| NC_000017.10:g.42152664C>T , CM000679.1:g.42152664C>T | GRCh37 |
| NC_000017.9:g.39508190C>T | NCBI36 |
| NG_015818.1:g.9567C>T , LRG_182:g.9567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585361.6:c.*373-14C>T | ENSP00000466983.1:n.*373-14C>T | |
| ENST00000588558.6:c.*511-14C>T | ENSP00000467624.1:n.*511-14C>T | |
| ENST00000590253.3:c.417-14C>T | ENSP00000465111.2:n.417-14C>T | |
| ENST00000593115.2:c.*557-14C>T | ENSP00000466821.1:n.*557-14C>T | |
| ENST00000696383.1:c.191-14C>T | ENSP00000512593.1:n.191-14C>T | |
| ENST00000696384.1:c.*96-14C>T | ENSP00000512594.1:n.*96-14C>T | |
| ENST00000696385.1:c.*254-14C>T | ENSP00000512595.1:n.*254-14C>T | |
| ENST00000696386.1:c.219-14C>T | ENSP00000512596.1:n.219-14C>T | |
| ENST00000696387.1:c.*163-14C>T | ENSP00000512597.1:n.*163-14C>T | |
| ENST00000696388.1:c.*382-14C>T | ENSP00000512598.1:n.*382-14C>T | |
| ENST00000696389.1:c.*567-14C>T | ENSP00000512599.1:n.*567-14C>T | |
| ENST00000696390.1:c.326-14C>T | ENSP00000512600.1:n.326-14C>T | |
| ENST00000696391.1:c.*392-14C>T | ENSP00000512601.1:n.*392-14C>T | |
| ENST00000696392.1:c.536-14C>T | ENSP00000512602.1:n.536-14C>T | |
| ENST00000696393.1:c.536-14C>T | ENSP00000512603.1:n.536-14C>T | |
| ENST00000696405.1:c.536-14C>T | ENSP00000512607.1:n.536-14C>T | |
| ENST00000269097.9:c.536-14C>T MANE Select | ENSP00000269097.3:n.536-14C>T | |
| ENST00000269097.8:c.536-14C>T | ENSP00000269097.3:n.536-14C>T | |
| ENST00000585361.5:c.*373-14C>T | ENSP00000466983.1:n.*373-14C>T | |
| ENST00000588558.5:c.*511-14C>T | ENSP00000467624.1:n.*511-14C>T | |
| ENST00000590253.2:c.38-14C>T | ||
| ENST00000590639.1:n.543C>T | ||
| ENST00000591696.1:c.428-14C>T | ENSP00000468677.1:n.428-14C>T | |
| NM_138387.3:c.536-14C>T , LRG_182t1:c.536-14C>T | NP_612396.1:n.536-14C>T | |
| NR_028581.1:n.966-14C>T | ||
| NR_028582.1:n.831-14C>T | ||
| XM_006722179.2:c.417-14C>T | XP_006722242.1:n.417-14C>T | |
| XM_011525473.1:c.191-14C>T | XP_011523775.1:n.191-14C>T | |
| XM_011525474.1:c.191-14C>T | XP_011523776.1:n.191-14C>T | |
| NM_001319945.1:c.417-14C>T | NP_001306874.1:n.417-14C>T | |
| XM_011525473.3:c.191-14C>T | XP_011523775.1:n.191-14C>T | |
| XM_011525474.3:c.191-14C>T | XP_011523776.1:n.191-14C>T | |
| XM_017025335.2:c.191-14C>T | XP_016880824.1:n.191-14C>T | |
| NM_001319945.2:c.417-14C>T | NP_001306874.1:n.417-14C>T | |
| NR_028581.2:n.785-14C>T | ||
| NR_028582.2:n.650-14C>T | ||
| NM_001384165.1:c.191-14C>T | NP_001371094.1:n.191-14C>T | |
| NM_001384166.1:c.191-14C>T | NP_001371095.1:n.191-14C>T | |
| NM_001384167.1:c.191-14C>T | NP_001371096.1:n.191-14C>T | |
| NM_001384168.1:c.191-14C>T | NP_001371097.1:n.191-14C>T | |
| NM_138387.4:c.536-14C>T MANE Select | NP_612396.1:n.536-14C>T |