Linked Data
ClinVar Variation Id:
1780391
ClinVar RCV Id:
RCV002407906
dbSNP Id:
rs1651864422
gnomAD v3:
1-156138589-C-T
gnomAD v4:
1-156138589-C-T
MyVariant Identifiers:
chr1:g.156108380C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138589C>T , CM000663.2:g.156138589C>T | GRCh38 |
| NC_000001.10:g.156108380C>T , CM000663.1:g.156108380C>T | GRCh37 |
| NC_000001.9:g.154375004C>T | NCBI36 |
| NG_008692.2:g.61017C>T , LRG_254:g.61017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1242C>T | ENSP00000426535.3:p.Ala414= | |
| ENST00000682650.1:c.1710C>T | ENSP00000506904.1:p.Ala570= | |
| ENST00000683032.1:c.1800C>T | ENSP00000506771.1:p.Ala600= | |
| ENST00000683773.1:n.145C>T | ||
| ENST00000684195.1:c.*892C>T | ENSP00000508220.1:n.*892C>T | |
| ENST00000361308.9:c.1800C>T | ENSP00000355292.6:p.Ala600= | |
| ENST00000368300.9:c.1800C>T MANE Select | ENSP00000357283.4:p.Ala600= | |
| ENST00000674518.1:c.*1150C>T | ENSP00000502261.1:n.*1150C>T | |
| ENST00000674600.1:c.*1599C>T | ENSP00000501666.1:n.*1599C>T | |
| ENST00000675455.1:c.*1600C>T | ENSP00000501795.1:n.*1600C>T | |
| ENST00000675667.1:c.1800C>T | ENSP00000501803.1:p.Ala600= | |
| ENST00000675874.1:c.*1271C>T | ENSP00000501851.1:n.*1271C>T | |
| ENST00000675881.1:c.*811C>T | ENSP00000501670.1:n.*811C>T | |
| ENST00000675939.1:c.1800C>T | ENSP00000502256.1:p.Ala600= | |
| ENST00000675989.1:n.3403C>T | ||
| ENST00000676208.1:c.*903C>T | ENSP00000502468.1:n.*903C>T | |
| ENST00000676283.1:n.3340C>T | ||
| ENST00000676385.2:c.1710C>T | ENSP00000502091.1:p.Ala570= | |
| ENST00000676434.1:c.*1555C>T | ENSP00000501648.1:n.*1555C>T | |
| ENST00000347559.6:c.1710C>T | ENSP00000292304.3:p.Ala570= | |
| ENST00000368299.7:c.1800C>T | ENSP00000357282.3:p.Ala600= | |
| ENST00000368300.8:c.1800C>T | ENSP00000357283.4:p.Ala600= | |
| ENST00000448611.6:c.1464C>T | ENSP00000395597.2:p.Ala488= | |
| ENST00000473598.6:c.1503C>T | ENSP00000421821.1:p.Ala501= | |
| ENST00000496738.5:n.2013C>T | ||
| ENST00000506981.1:n.384C>T | ||
| ENST00000508500.1:c.588C>T | ENSP00000424977.1:p.Ala196= | |
| NM_001257374.2:c.1464C>T | NP_001244303.1:p.Ala488= | |
| NM_001282626.1:c.1800C>T | NP_001269555.1:p.Ala600= | |
| NM_170707.3:c.1800C>T | NP_733821.1:p.Ala600= | |
| NM_170708.3:c.1710C>T | NP_733822.1:p.Ala570= | |
| XM_011509533.1:c.1464C>T | XP_011507835.1:p.Ala488= | |
| XM_011509534.1:c.1176C>T | XP_011507836.1:p.Ala392= | |
| XR_921781.1:n.2089C>T | ||
| XM_011509534.2:c.1176C>T | XP_011507836.1:p.Ala392= | |
| XR_921781.2:n.2087C>T | ||
| NM_170707.4:c.1800C>T MANE Select | NP_733821.1:p.Ala600= | |
| NM_001257374.3:c.1464C>T | NP_001244303.1:p.Ala488= | |
| NM_001282626.2:c.1800C>T | NP_001269555.1:p.Ala600= | |
| NM_170708.4:c.1710C>T | NP_733822.1:p.Ala570= |