Linked Data
dbSNP Id:
rs543538746
gnomAD v2:
1-156107660-C-T
gnomAD v3:
1-156137869-C-T
gnomAD v4:
1-156137869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137869C>T , CM000663.2:g.156137869C>T | GRCh38 |
| NC_000001.10:g.156107660C>T , CM000663.1:g.156107660C>T | GRCh37 |
| NC_000001.9:g.154374284C>T | NCBI36 |
| NG_008692.2:g.60297C>T , LRG_254:g.60297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1140+126C>T | ENSP00000426535.3:n.1140+126C>T | |
| ENST00000682650.1:c.1609-619C>T | ENSP00000506904.1:n.1609-619C>T | |
| ENST00000683032.1:c.1698+126C>T | ENSP00000506771.1:n.1698+126C>T | |
| ENST00000683773.1:n.43+126C>T | ||
| ENST00000684195.1:c.*172C>T | ENSP00000508220.1:n.*172C>T | |
| ENST00000361308.9:c.1698+126C>T | ENSP00000355292.6:n.1698+126C>T | |
| ENST00000368300.9:c.1698+126C>T MANE Select | ENSP00000357283.4:n.1698+126C>T | |
| ENST00000496738.6:n.2283C>T | ||
| ENST00000674518.1:c.*1048+126C>T | ENSP00000502261.1:n.*1048+126C>T | |
| ENST00000674600.1:c.*1497+126C>T | ENSP00000501666.1:n.*1497+126C>T | |
| ENST00000674720.1:c.*386C>T | ENSP00000502798.1:n.*386C>T | |
| ENST00000675455.1:c.*1498+126C>T | ENSP00000501795.1:n.*1498+126C>T | |
| ENST00000675667.1:c.1698+126C>T | ENSP00000501803.1:n.1698+126C>T | |
| ENST00000675874.1:c.*1169+126C>T | ENSP00000501851.1:n.*1169+126C>T | |
| ENST00000675881.1:c.*709+126C>T | ENSP00000501670.1:n.*709+126C>T | |
| ENST00000675939.1:c.1698+126C>T | ENSP00000502256.1:n.1698+126C>T | |
| ENST00000675989.1:n.2683C>T | ||
| ENST00000676208.1:c.*801+126C>T | ENSP00000502468.1:n.*801+126C>T | |
| ENST00000676283.1:n.2620C>T | ||
| ENST00000676385.2:c.1609-619C>T | ENSP00000502091.1:n.1609-619C>T | |
| ENST00000676434.1:c.*835C>T | ENSP00000501648.1:n.*835C>T | |
| ENST00000347559.6:c.1609-619C>T | ENSP00000292304.3:n.1609-619C>T | |
| ENST00000368299.7:c.1698+126C>T | ENSP00000357282.3:n.1698+126C>T | |
| ENST00000368300.8:c.1698+126C>T | ENSP00000357283.4:n.1698+126C>T | |
| ENST00000448611.6:c.1362+126C>T | ENSP00000395597.2:n.1362+126C>T | |
| ENST00000473598.6:c.1401+126C>T | ENSP00000421821.1:n.1401+126C>T | |
| ENST00000496738.5:n.1293C>T | ||
| ENST00000498722.2:n.1056C>T | ||
| ENST00000506981.1:n.282+126C>T | ||
| ENST00000508500.1:c.487-619C>T | ENSP00000424977.1:n.487-619C>T | |
| NM_001257374.2:c.1362+126C>T | NP_001244303.1:n.1362+126C>T | |
| NM_001282626.1:c.1698+126C>T | NP_001269555.1:n.1698+126C>T | |
| NM_170707.3:c.1698+126C>T | NP_733821.1:n.1698+126C>T | |
| NM_170708.3:c.1609-619C>T | NP_733822.1:n.1609-619C>T | |
| XM_011509533.1:c.1362+126C>T | XP_011507835.1:n.1362+126C>T | |
| XM_011509534.1:c.1074+126C>T | XP_011507836.1:n.1074+126C>T | |
| XR_921781.1:n.1987+126C>T | ||
| XM_011509534.2:c.1074+126C>T | XP_011507836.1:n.1074+126C>T | |
| XR_921781.2:n.1985+126C>T | ||
| NM_170707.4:c.1698+126C>T MANE Select | NP_733821.1:n.1698+126C>T | |
| NM_001257374.3:c.1362+126C>T | NP_001244303.1:n.1362+126C>T | |
| NM_001282626.2:c.1698+126C>T | NP_001269555.1:n.1698+126C>T | |
| NM_170708.4:c.1609-619C>T | NP_733822.1:n.1609-619C>T |