Linked Data
ClinVar Variation Id:
2213961
ClinVar RCV Id:
RCV004075708
dbSNP Id:
rs745502642
ExAC:
3:53899039 G / A
gnomAD v2:
3-53899039-G-A
gnomAD v4:
3-53865012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53865012G>A , CM000665.2:g.53865012G>A | GRCh38 |
| NC_000003.11:g.53899039G>A , CM000665.1:g.53899039G>A | GRCh37 |
| NC_000003.10:g.53874079G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288167.8:c.1213G>A (IL17RB) MANE Select | ENSP00000288167.3:p.Asp405Asn | |
| ENST00000288167.7:c.1213G>A (IL17RB) | ENSP00000288167.3:p.Asp405Asn | |
| ENST00000475124.1:n.2246G>A (IL17RB) | ||
| NM_018725.3:c.1213G>A (IL17RB) | NP_061195.2:p.Asp405Asn | |
| XM_005265310.3:c.1300G>A (IL17RB) | XP_005265367.1:p.Asp434Asn | |
| XM_005265311.3:c.1252G>A (IL17RB) | XP_005265368.1:p.Asp418Asn | |
| XM_005265312.3:c.1165G>A (IL17RB) | XP_005265369.1:p.Asp389Asn | |
| XM_005265587.3:c.*53C>T (ACTR8) | XP_005265644.1:n.*53C>T | |
| XM_011533940.1:c.949G>A (IL17RB) | XP_011532242.1:p.Asp317Asn | |
| XR_245147.3:n.1514G>A (IL17RB) | ||
| XR_940467.1:n.1379G>A (IL17RB) | ||
| XR_940468.1:n.1292G>A (IL17RB) | ||
| XM_005265310.5:c.1300G>A (IL17RB) | XP_005265367.1:p.Asp434Asn | |
| XM_005265311.5:c.1252G>A (IL17RB) | XP_005265368.1:p.Asp418Asn | |
| XM_005265312.5:c.1165G>A (IL17RB) | XP_005265369.1:p.Asp389Asn | |
| XM_005265587.5:c.*53C>T (ACTR8) | XP_005265644.1:n.*53C>T | |
| XM_011533941.3:c.*93G>A (IL17RB) | XP_011532243.1:n.*93G>A | |
| XM_011534249.3:c.*3707C>T (ACTR8) | XP_011532551.1:n.*3707C>T | |
| XM_017006804.2:c.949G>A (IL17RB) | XP_016862293.1:p.Asp317Asn | |
| XM_017006805.2:c.901G>A (IL17RB) | XP_016862294.1:p.Asp301Asn | |
| XM_017006806.2:c.862G>A (IL17RB) | XP_016862295.1:p.Asp288Asn | |
| XM_017006807.2:c.*93G>A (IL17RB) | XP_016862296.1:n.*93G>A | |
| XR_940516.3:n.5660C>T (ACTR8) | ||
| NM_018725.4:c.1213G>A (IL17RB) MANE Select | NP_061195.2:p.Asp405Asn |