Linked Data
ClinVar Variation Id:
225702
ClinVar RCV Id:
RCV000491934
dbSNP Id:
rs201298520
gnomAD v2:
5-148753948-C-T
gnomAD v3:
5-149374385-C-T
gnomAD v4:
5-149374385-C-T
PubMed:
PMID:27703147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149374385C>T , CM000667.2:g.149374385C>T | GRCh38 |
| NC_000005.9:g.148753948C>T , CM000667.1:g.148753948C>T | GRCh37 |
| NC_000005.8:g.148734141C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261796.4:c.527G>A (IL17B) MANE Select | ENSP00000261796.3:p.Cys176Tyr | |
| ENST00000261796.3:c.527G>A (IL17B) | ENSP00000261796.3:p.Cys176Tyr | |
| ENST00000505432.1:n.601G>A (IL17B) | ||
| NM_014443.2:c.527G>A (IL17B) | NP_055258.1:p.Cys176Tyr | |
| XM_006714779.2:c.371G>A (IL17B) | XP_006714842.1:p.Cys124Tyr | |
| XM_011537621.1:c.758G>A (IL17B) | XP_011535923.1:p.Cys253Tyr | |
| XM_011537622.1:c.371G>A (IL17B) | XP_011535924.1:p.Cys124Tyr | |
| XR_944403.1:n.772-324C>T | ||
| NM_001317987.1:c.371G>A (IL17B) | NP_001304916.1:p.Cys124Tyr | |
| XM_011537622.2:c.371G>A (IL17B) | XP_011535924.1:p.Cys124Tyr | |
| XM_017009346.1:c.722G>A (IL17B) | XP_016864835.1:p.Cys241Tyr | |
| XM_017009347.1:c.371G>A (IL17B) | XP_016864836.1:p.Cys124Tyr | |
| XM_017009348.1:c.371G>A (IL17B) | XP_016864837.1:p.Cys124Tyr | |
| XR_001742250.2:n.3272-324C>T (PCYOX1L) | ||
| XR_001742251.2:n.3011-324C>T (PCYOX1L) | ||
| NM_014443.3:c.527G>A (IL17B) MANE Select | NP_055258.1:p.Cys176Tyr | |
| NM_001317987.2:c.371G>A (IL17B) | NP_001304916.1:p.Cys124Tyr |