Linked Data
ClinVar Variation Id:
163879
dbSNP Id:
rs727503137
ExAC:
1:156108271 C / G
gnomAD v2:
1-156108271-C-G
gnomAD v3:
1-156138480-C-G
gnomAD v4:
1-156138480-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138480C>G , CM000663.2:g.156138480C>G | GRCh38 |
| NC_000001.10:g.156108271C>G , CM000663.1:g.156108271C>G | GRCh37 |
| NC_000001.9:g.154374895C>G | NCBI36 |
| NG_008692.2:g.60908C>G , LRG_254:g.60908C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1141-8C>G | ENSP00000426535.3:n.1141-8C>G | |
| ENST00000682650.1:c.1609-8C>G | ENSP00000506904.1:n.1609-8C>G | |
| ENST00000683032.1:c.1699-8C>G | ENSP00000506771.1:n.1699-8C>G | |
| ENST00000683773.1:n.44-8C>G | ||
| ENST00000684195.1:c.*783C>G | ENSP00000508220.1:n.*783C>G | |
| ENST00000361308.9:c.1699-8C>G | ENSP00000355292.6:n.1699-8C>G | |
| ENST00000368300.9:c.1699-8C>G MANE Select | ENSP00000357283.4:n.1699-8C>G | |
| ENST00000496738.6:n.2894C>G | ||
| ENST00000674518.1:c.*1049-8C>G | ENSP00000502261.1:n.*1049-8C>G | |
| ENST00000674600.1:c.*1498-8C>G | ENSP00000501666.1:n.*1498-8C>G | |
| ENST00000674720.1:c.*997C>G | ENSP00000502798.1:n.*997C>G | |
| ENST00000675455.1:c.*1499-8C>G | ENSP00000501795.1:n.*1499-8C>G | |
| ENST00000675667.1:c.1699-8C>G | ENSP00000501803.1:n.1699-8C>G | |
| ENST00000675874.1:c.*1170-8C>G | ENSP00000501851.1:n.*1170-8C>G | |
| ENST00000675881.1:c.*710-8C>G | ENSP00000501670.1:n.*710-8C>G | |
| ENST00000675939.1:c.1699-8C>G | ENSP00000502256.1:n.1699-8C>G | |
| ENST00000675989.1:n.3294C>G | ||
| ENST00000676208.1:c.*802-8C>G | ENSP00000502468.1:n.*802-8C>G | |
| ENST00000676283.1:n.3231C>G | ||
| ENST00000676385.2:c.1609-8C>G | ENSP00000502091.1:n.1609-8C>G | |
| ENST00000676434.1:c.*1446C>G | ENSP00000501648.1:n.*1446C>G | |
| ENST00000347559.6:c.1609-8C>G | ENSP00000292304.3:n.1609-8C>G | |
| ENST00000368299.7:c.1699-8C>G | ENSP00000357282.3:n.1699-8C>G | |
| ENST00000368300.8:c.1699-8C>G | ENSP00000357283.4:n.1699-8C>G | |
| ENST00000448611.6:c.1363-8C>G | ENSP00000395597.2:n.1363-8C>G | |
| ENST00000473598.6:c.1402-8C>G | ENSP00000421821.1:n.1402-8C>G | |
| ENST00000496738.5:n.1904C>G | ||
| ENST00000506981.1:n.283-8C>G | ||
| ENST00000508500.1:c.487-8C>G | ENSP00000424977.1:n.487-8C>G | |
| NM_001257374.2:c.1363-8C>G | NP_001244303.1:n.1363-8C>G | |
| NM_001282626.1:c.1699-8C>G | NP_001269555.1:n.1699-8C>G | |
| NM_170707.3:c.1699-8C>G | NP_733821.1:n.1699-8C>G | |
| NM_170708.3:c.1609-8C>G | NP_733822.1:n.1609-8C>G | |
| XM_011509533.1:c.1363-8C>G | XP_011507835.1:n.1363-8C>G | |
| XM_011509534.1:c.1075-8C>G | XP_011507836.1:n.1075-8C>G | |
| XR_921781.1:n.1988-8C>G | ||
| XM_011509534.2:c.1075-8C>G | XP_011507836.1:n.1075-8C>G | |
| XR_921781.2:n.1986-8C>G | ||
| NM_170707.4:c.1699-8C>G MANE Select | NP_733821.1:n.1699-8C>G | |
| NM_001257374.3:c.1363-8C>G | NP_001244303.1:n.1363-8C>G | |
| NM_001282626.2:c.1699-8C>G | NP_001269555.1:n.1699-8C>G | |
| NM_170708.4:c.1609-8C>G | NP_733822.1:n.1609-8C>G |