Linked Data
ClinVar Variation Id:
565354
ClinVar RCV Id:
RCV000684895
dbSNP Id:
rs371491169
gnomAD v3:
5-128537511-C-G
gnomAD v4:
5-128537511-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128537511C>G , CM000667.2:g.128537511C>G | GRCh38 |
| NC_000005.9:g.127873204C>G , CM000667.1:g.127873204C>G | GRCh37 |
| NC_000005.8:g.127901103C>G | NCBI36 |
| NG_008750.1:g.5532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.93G>C | ENSP00000424571.2:p.Gln31His | |
| ENST00000262464.9:c.93G>C MANE Select | ENSP00000262464.4:p.Gln31His | |
| ENST00000262464.8:c.93G>C | ENSP00000262464.4:p.Gln31His | |
| ENST00000502468.5:c.93G>C | ENSP00000424753.1:p.Gln31His | |
| ENST00000508053.5:c.93G>C | ENSP00000424571.1:p.Gln31His | |
| ENST00000508989.5:c.93G>C | ENSP00000425596.1:p.Gln31His | |
| ENST00000514742.1:n.713G>C | ||
| ENST00000619499.4:c.93G>C | ENSP00000482132.1:p.Gln31His | |
| ENST00000620257.1:c.93G>C | ENSP00000479157.1:p.Gln31His | |
| NM_001999.3:c.93G>C | NP_001990.2:p.Gln31His | |
| XM_017009228.2:c.93G>C | XP_016864717.1:p.Gln31His | |
| NM_001999.4:c.93G>C MANE Select | NP_001990.2:p.Gln31His |