Linked Data
ClinVar Variation Id:
213366
dbSNP Id:
rs375316758
ExAC:
5:127607709 G / T
gnomAD v2:
5-127607709-G-T
gnomAD v3:
5-128272017-G-T
gnomAD v4:
5-128272017-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128272017G>T , CM000667.2:g.128272017G>T | GRCh38 |
| NC_000005.9:g.127607709G>T , CM000667.1:g.127607709G>T | GRCh37 |
| NC_000005.8:g.127635608G>T | NCBI36 |
| NG_008750.1:g.271027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703782.1:n.57C>A | ||
| ENST00000703783.1:n.4726C>A | ||
| ENST00000703784.1:n.109C>A | ||
| ENST00000262464.9:c.7942C>A MANE Select | ENSP00000262464.4:p.Gln2648Lys | |
| ENST00000262464.8:c.7942C>A | ENSP00000262464.4:p.Gln2648Lys | |
| ENST00000508053.5:c.7942C>A | ENSP00000424571.1:p.Gln2648Lys | |
| ENST00000619499.4:c.7939C>A | ENSP00000482132.1:p.Gln2647Lys | |
| NM_001999.3:c.7942C>A | NP_001990.2:p.Gln2648Lys | |
| XM_017009228.2:c.7789C>A | XP_016864717.1:p.Gln2597Lys | |
| NM_001999.4:c.7942C>A MANE Select | NP_001990.2:p.Gln2648Lys |