Linked Data
ClinVar Variation Id:
163878
ClinVar RCV Id:
RCV000150955
RCV000468904
RCV000491650
RCV000621850
RCV000449630
RCV000505801
RCV001101061
RCV001100810
RCV001101055
RCV001101062
RCV000771819
RCV001248958
RCV001781492
RCV001101057
RCV001101058
RCV001101059
RCV001101060
RCV003993830
RCV003998208
RCV004532675
dbSNP Id:
rs142191737
ExAC:
1:156107470 G / A
gnomAD v2:
1-156107470-G-A
gnomAD v3:
1-156137679-G-A
gnomAD v4:
1-156137679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156137679G>A , CM000663.2:g.156137679G>A | GRCh38 |
| NC_000001.10:g.156107470G>A , CM000663.1:g.156107470G>A | GRCh37 |
| NC_000001.9:g.154374094G>A | NCBI36 |
| NG_008692.2:g.60107G>A , LRG_254:g.60107G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1076G>A | ENSP00000426535.3:p.Arg359His | |
| ENST00000498722.3:n.866G>A | ||
| ENST00000682650.1:c.1608+447G>A | ENSP00000506904.1:n.1608+447G>A | |
| ENST00000683032.1:c.1634G>A | ENSP00000506771.1:p.Arg545His | |
| ENST00000684195.1:c.1605G>A | ENSP00000508220.1:p.Ala535= | |
| ENST00000361308.9:c.1634G>A | ENSP00000355292.6:p.Arg545His | |
| ENST00000368300.9:c.1634G>A MANE Select | ENSP00000357283.4:p.Arg545His | |
| ENST00000496738.6:n.2093G>A | ||
| ENST00000674518.1:c.*984G>A | ENSP00000502261.1:n.*984G>A | |
| ENST00000674600.1:c.*1433G>A | ENSP00000501666.1:n.*1433G>A | |
| ENST00000674720.1:c.*196G>A | ENSP00000502798.1:n.*196G>A | |
| ENST00000675431.1:n.1327G>A | ||
| ENST00000675455.1:c.*1434G>A | ENSP00000501795.1:n.*1434G>A | |
| ENST00000675667.1:c.1634G>A | ENSP00000501803.1:p.Arg545His | |
| ENST00000675874.1:c.*1105G>A | ENSP00000501851.1:n.*1105G>A | |
| ENST00000675881.1:c.*645G>A | ENSP00000501670.1:n.*645G>A | |
| ENST00000675939.1:c.1634G>A | ENSP00000502256.1:p.Arg545His | |
| ENST00000675989.1:n.2493G>A | ||
| ENST00000676208.1:c.*737G>A | ENSP00000502468.1:n.*737G>A | |
| ENST00000676283.1:n.2430G>A | ||
| ENST00000676385.2:c.1608+447G>A | ENSP00000502091.1:n.1608+447G>A | |
| ENST00000676434.1:c.*645G>A | ENSP00000501648.1:n.*645G>A | |
| ENST00000677389.1:c.1634G>A MANE Plus Clinical | ENSP00000503633.1:p.Arg545His | |
| ENST00000347559.6:c.1608+447G>A | ENSP00000292304.3:n.1608+447G>A | |
| ENST00000361308.8:c.1379G>A | ENSP00000355292.5:p.Arg460His | |
| ENST00000368297.5:c.1391G>A | ENSP00000357280.1:p.Arg464His | |
| ENST00000368299.7:c.1634G>A | ENSP00000357282.3:p.Arg545His | |
| ENST00000368300.8:c.1634G>A | ENSP00000357283.4:p.Arg545His | |
| ENST00000368301.6:c.1634G>A | ENSP00000357284.2:p.Arg545His | |
| ENST00000448611.6:c.1298G>A | ENSP00000395597.2:p.Arg433His | |
| ENST00000473598.6:c.1337G>A | ENSP00000421821.1:p.Arg446His | |
| ENST00000496738.5:n.1103G>A | ||
| ENST00000498722.2:n.866G>A | ||
| ENST00000506981.1:n.218G>A | ||
| ENST00000508500.1:c.486+447G>A | ENSP00000424977.1:n.486+447G>A | |
| NM_001257374.2:c.1298G>A | NP_001244303.1:p.Arg433His | |
| NM_001282624.1:c.1391G>A | NP_001269553.1:p.Arg464His | |
| NM_001282625.1:c.1634G>A | NP_001269554.1:p.Arg545His | |
| NM_001282626.1:c.1634G>A | NP_001269555.1:p.Arg545His | |
| NM_005572.3:c.1634G>A , LRG_254t1:c.1634G>A | NP_005563.1:p.Arg545His | |
| NM_170707.3:c.1634G>A | NP_733821.1:p.Arg545His | |
| NM_170708.3:c.1608+447G>A | NP_733822.1:n.1608+447G>A | |
| XM_011509533.1:c.1298G>A | XP_011507835.1:p.Arg433His | |
| XM_011509534.1:c.1010G>A | XP_011507836.1:p.Arg337His | |
| XR_921781.1:n.1923G>A | ||
| XM_011509534.2:c.1010G>A | XP_011507836.1:p.Arg337His | |
| XR_921781.2:n.1921G>A | ||
| NM_170707.4:c.1634G>A MANE Select | NP_733821.1:p.Arg545His | |
| NM_001257374.3:c.1298G>A | NP_001244303.1:p.Arg433His | |
| NM_001282626.2:c.1634G>A | NP_001269555.1:p.Arg545His | |
| NM_001282624.2:c.1391G>A | NP_001269553.1:p.Arg464His | |
| NM_001282625.2:c.1634G>A | NP_001269554.1:p.Arg545His | |
| NM_005572.4:c.1634G>A MANE Plus Clinical | NP_005563.1:p.Arg545His | |
| NM_170708.4:c.1608+447G>A | NP_733822.1:n.1608+447G>A |