Linked Data
ClinVar Variation Id:
4753
dbSNP Id:
rs119478059
ExAC:
3:139069025 G / A
gnomAD v2:
3-139069025-G-A
gnomAD v3:
3-139350183-G-A
gnomAD v4:
3-139350183-G-A
PubMed:
PMID:17873122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139350183G>A , CM000665.2:g.139350183G>A | GRCh38 |
| NC_000003.11:g.139069025G>A , CM000665.1:g.139069025G>A | GRCh37 |
| NC_000003.10:g.140551715G>A | NCBI36 |
| NG_012174.1:g.11165G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478464.6:c.299G>A | ENSP00000419303.2:p.Arg100His | |
| ENST00000480644.2:c.509G>A | ENSP00000420229.2:p.Arg170His | |
| ENST00000492644.2:n.523G>A | ||
| ENST00000684961.1:c.128G>A | ENSP00000508439.1:p.Arg43His | |
| ENST00000686433.1:c.509G>A | ENSP00000509173.1:p.Arg170His | |
| ENST00000687538.1:c.299G>A | ENSP00000508887.1:p.Arg100His | |
| ENST00000688697.1:c.509G>A | ENSP00000510396.1:p.Arg170His | |
| ENST00000689286.1:c.299G>A | ENSP00000509897.1:p.Arg100His | |
| ENST00000689925.1:c.299G>A | ENSP00000510082.1:p.Arg100His | |
| ENST00000690298.1:c.*150G>A | ENSP00000509376.1:n.*150G>A | |
| ENST00000691070.1:c.509G>A | ENSP00000509723.1:p.Arg170His | |
| ENST00000692727.1:n.2377G>A | ||
| ENST00000693155.1:n.532G>A | ||
| ENST00000310776.9:c.506G>A | ENSP00000310785.5:p.Arg169His | |
| ENST00000680020.1:c.509G>A MANE Select | ENSP00000505414.1:p.Arg170His | |
| ENST00000310776.8:c.509G>A | ENSP00000310785.4:p.Arg170His | |
| ENST00000465056.5:c.506G>A | ENSP00000418233.1:p.Arg169His | |
| ENST00000465373.5:c.524G>A | ENSP00000419920.1:p.Arg175His | |
| ENST00000466690.5:c.602G>A | ||
| ENST00000478464.5:c.386G>A | ENSP00000419303.1:p.Arg129His | |
| ENST00000480644.1:c.48G>A | ||
| ENST00000480938.5:n.509G>A | ||
| ENST00000483545.1:n.249G>A | ||
| ENST00000495075.5:c.509G>A | ENSP00000418008.1:p.Arg170His | |
| ENST00000498505.5:c.*106G>A | ENSP00000420482.1:n.*106G>A | |
| NM_020191.2:c.509G>A | NP_064576.1:p.Arg170His | |
| XM_005247640.2:c.506G>A | XP_005247697.1:p.Arg169His | |
| XM_006713703.2:c.509G>A | XP_006713766.1:p.Arg170His | |
| XM_011512995.1:c.386G>A | XP_011511297.1:p.Arg129His | |
| XM_011512996.1:c.383G>A | XP_011511298.1:p.Arg128His | |
| NM_001363857.1:c.386G>A | NP_001350786.1:p.Arg129His | |
| NM_001363893.1:c.506G>A | NP_001350822.1:p.Arg169His | |
| NM_020191.3:c.509G>A | NP_064576.1:p.Arg170His | |
| XM_006713703.4:c.509G>A | XP_006713766.1:p.Arg170His | |
| XM_011512996.2:c.383G>A | XP_011511298.1:p.Arg128His | |
| NM_020191.4:c.509G>A MANE Select | NP_064576.1:p.Arg170His |