Linked Data
ClinVar Variation Id:
161291
ClinVar RCV Id:
RCV000148599
RCV000182377
RCV000245708
RCV000769735
RCV000725647
RCV001079490
RCV001330501
dbSNP Id:
rs368386019
ExAC:
1:156108511 G / A
gnomAD v2:
1-156108511-G-A
gnomAD v3:
1-156138720-G-A
gnomAD v4:
1-156138720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138720G>A , CM000663.2:g.156138720G>A | GRCh38 |
| NC_000001.10:g.156108511G>A , CM000663.1:g.156108511G>A | GRCh37 |
| NC_000001.9:g.154375135G>A | NCBI36 |
| NG_008692.2:g.61148G>A , LRG_254:g.61148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1373G>A | ENSP00000426535.3:p.Arg458His | |
| ENST00000682650.1:c.1841G>A | ENSP00000506904.1:p.Arg614His | |
| ENST00000683032.1:c.1931G>A | ENSP00000506771.1:p.Arg644His | |
| ENST00000683773.1:n.163+113G>A | ||
| ENST00000684195.1:c.*1023G>A | ENSP00000508220.1:n.*1023G>A | |
| ENST00000361308.9:c.1931G>A | ENSP00000355292.6:p.Arg644His | |
| ENST00000368300.9:c.1931G>A MANE Select | ENSP00000357283.4:p.Arg644His | |
| ENST00000674518.1:c.*1281G>A | ENSP00000502261.1:n.*1281G>A | |
| ENST00000674600.1:c.*1730G>A | ENSP00000501666.1:n.*1730G>A | |
| ENST00000675455.1:c.*1731G>A | ENSP00000501795.1:n.*1731G>A | |
| ENST00000675667.1:c.1931G>A | ENSP00000501803.1:p.Arg644His | |
| ENST00000675874.1:c.*1402G>A | ENSP00000501851.1:n.*1402G>A | |
| ENST00000675881.1:c.*942G>A | ENSP00000501670.1:n.*942G>A | |
| ENST00000675939.1:c.1931G>A | ENSP00000502256.1:p.Arg644His | |
| ENST00000675989.1:n.3534G>A | ||
| ENST00000676208.1:c.*1034G>A | ENSP00000502468.1:n.*1034G>A | |
| ENST00000676385.2:c.1841G>A | ENSP00000502091.1:p.Arg614His | |
| ENST00000676434.1:c.*1686G>A | ENSP00000501648.1:n.*1686G>A | |
| ENST00000347559.6:c.1841G>A | ENSP00000292304.3:p.Arg614His | |
| ENST00000368299.7:c.1818+113G>A | ENSP00000357282.3:n.1818+113G>A | |
| ENST00000368300.8:c.1931G>A | ENSP00000357283.4:p.Arg644His | |
| ENST00000448611.6:c.1595G>A | ENSP00000395597.2:p.Arg532His | |
| ENST00000473598.6:c.1634G>A | ENSP00000421821.1:p.Arg545His | |
| ENST00000496738.5:n.2144G>A | ||
| ENST00000506981.1:n.515G>A | ||
| ENST00000508500.1:c.719G>A | ENSP00000424977.1:p.Arg240His | |
| NM_001257374.2:c.1595G>A | NP_001244303.1:p.Arg532His | |
| NM_001282626.1:c.1818+113G>A | NP_001269555.1:n.1818+113G>A | |
| NM_170707.3:c.1931G>A | NP_733821.1:p.Arg644His | |
| NM_170708.3:c.1841G>A | NP_733822.1:p.Arg614His | |
| XM_011509533.1:c.1595G>A | XP_011507835.1:p.Arg532His | |
| XM_011509534.1:c.1307G>A | XP_011507836.1:p.Arg436His | |
| XR_921781.1:n.2220G>A | ||
| XM_011509534.2:c.1307G>A | XP_011507836.1:p.Arg436His | |
| XR_921781.2:n.2218G>A | ||
| NM_170707.4:c.1931G>A MANE Select | NP_733821.1:p.Arg644His | |
| NM_001257374.3:c.1595G>A | NP_001244303.1:p.Arg532His | |
| NM_001282626.2:c.1818+113G>A | NP_001269555.1:n.1818+113G>A | |
| NM_170708.4:c.1841G>A | NP_733822.1:p.Arg614His |