Linked Data
ClinVar Variation Id:
210996
dbSNP Id:
rs78727187
ExAC:
5:127668685 G / T
gnomAD v2:
5-127668685-G-T
gnomAD v3:
5-128332993-G-T
gnomAD v4:
5-128332993-G-T
PubMed:
PMID:27007659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332993G>T , CM000667.2:g.128332993G>T | GRCh38 |
| NC_000005.9:g.127668685G>T , CM000667.1:g.127668685G>T | GRCh37 |
| NC_000005.8:g.127696584G>T | NCBI36 |
| NG_008750.1:g.210051C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.925C>A | ||
| ENST00000703785.1:n.1006C>A | ||
| ENST00000262464.9:c.4141C>A MANE Select | ENSP00000262464.4:p.His1381Asn | |
| ENST00000262464.8:c.4141C>A | ENSP00000262464.4:p.His1381Asn | |
| ENST00000507835.5:c.691C>A | ENSP00000426839.1:p.His231Asn | |
| ENST00000508053.5:c.4141C>A | ENSP00000424571.1:p.His1381Asn | |
| ENST00000508989.5:c.4042C>A | ENSP00000425596.1:p.His1348Asn | |
| ENST00000619499.4:c.4138C>A | ENSP00000482132.1:p.His1380Asn | |
| NM_001999.3:c.4141C>A | NP_001990.2:p.His1381Asn | |
| XM_017009228.2:c.3988C>A | XP_016864717.1:p.His1330Asn | |
| NM_001999.4:c.4141C>A MANE Select | NP_001990.2:p.His1381Asn |