Linked Data
ClinVar Variation Id:
48049
ClinVar RCV Id:
RCV000041330
RCV000057355
RCV001065506
RCV001184222
RCV002467559
RCV002504919
RCV003162351
dbSNP Id:
rs56657623
ExAC:
1:156108331 G / A
gnomAD v2:
1-156108331-G-A
gnomAD v3:
1-156138540-G-A
gnomAD v4:
1-156138540-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156138540G>A , CM000663.2:g.156138540G>A | GRCh38 |
| NC_000001.10:g.156108331G>A , CM000663.1:g.156108331G>A | GRCh37 |
| NC_000001.9:g.154374955G>A | NCBI36 |
| NG_008692.2:g.60968G>A , LRG_254:g.60968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1193G>A | ENSP00000426535.3:p.Arg398His | |
| ENST00000682650.1:c.1661G>A | ENSP00000506904.1:p.Arg554His | |
| ENST00000683032.1:c.1751G>A | ENSP00000506771.1:p.Arg584His | |
| ENST00000683773.1:n.96G>A | ||
| ENST00000684195.1:c.*843G>A | ENSP00000508220.1:n.*843G>A | |
| ENST00000361308.9:c.1751G>A | ENSP00000355292.6:p.Arg584His | |
| ENST00000368300.9:c.1751G>A MANE Select | ENSP00000357283.4:p.Arg584His | |
| ENST00000496738.6:n.2954G>A | ||
| ENST00000674518.1:c.*1101G>A | ENSP00000502261.1:n.*1101G>A | |
| ENST00000674600.1:c.*1550G>A | ENSP00000501666.1:n.*1550G>A | |
| ENST00000674720.1:c.*1057G>A | ENSP00000502798.1:n.*1057G>A | |
| ENST00000675455.1:c.*1551G>A | ENSP00000501795.1:n.*1551G>A | |
| ENST00000675667.1:c.1751G>A | ENSP00000501803.1:p.Arg584His | |
| ENST00000675874.1:c.*1222G>A | ENSP00000501851.1:n.*1222G>A | |
| ENST00000675881.1:c.*762G>A | ENSP00000501670.1:n.*762G>A | |
| ENST00000675939.1:c.1751G>A | ENSP00000502256.1:p.Arg584His | |
| ENST00000675989.1:n.3354G>A | ||
| ENST00000676208.1:c.*854G>A | ENSP00000502468.1:n.*854G>A | |
| ENST00000676283.1:n.3291G>A | ||
| ENST00000676385.2:c.1661G>A | ENSP00000502091.1:p.Arg554His | |
| ENST00000676434.1:c.*1506G>A | ENSP00000501648.1:n.*1506G>A | |
| ENST00000347559.6:c.1661G>A | ENSP00000292304.3:p.Arg554His | |
| ENST00000368299.7:c.1751G>A | ENSP00000357282.3:p.Arg584His | |
| ENST00000368300.8:c.1751G>A | ENSP00000357283.4:p.Arg584His | |
| ENST00000448611.6:c.1415G>A | ENSP00000395597.2:p.Arg472His | |
| ENST00000473598.6:c.1454G>A | ENSP00000421821.1:p.Arg485His | |
| ENST00000496738.5:n.1964G>A | ||
| ENST00000506981.1:n.335G>A | ||
| ENST00000508500.1:c.539G>A | ENSP00000424977.1:p.Arg180His | |
| NM_001257374.2:c.1415G>A | NP_001244303.1:p.Arg472His | |
| NM_001282626.1:c.1751G>A | NP_001269555.1:p.Arg584His | |
| NM_170707.3:c.1751G>A | NP_733821.1:p.Arg584His | |
| NM_170708.3:c.1661G>A | NP_733822.1:p.Arg554His | |
| XM_011509533.1:c.1415G>A | XP_011507835.1:p.Arg472His | |
| XM_011509534.1:c.1127G>A | XP_011507836.1:p.Arg376His | |
| XR_921781.1:n.2040G>A | ||
| XM_011509534.2:c.1127G>A | XP_011507836.1:p.Arg376His | |
| XR_921781.2:n.2038G>A | ||
| NM_170707.4:c.1751G>A MANE Select | NP_733821.1:p.Arg584His | |
| NM_001257374.3:c.1415G>A | NP_001244303.1:p.Arg472His | |
| NM_001282626.2:c.1751G>A | NP_001269555.1:p.Arg584His | |
| NM_170708.4:c.1661G>A | NP_733822.1:p.Arg554His |