Linked Data
ClinVar Variation Id:
347818
dbSNP Id:
rs560732073
ExAC:
4:155507965 G / C
gnomAD v2:
4-155507965-G-C
gnomAD v3:
4-154586813-G-C
gnomAD v4:
4-154586813-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154586813G>C , CM000666.2:g.154586813G>C | GRCh38 |
| NC_000004.11:g.155507965G>C , CM000666.1:g.155507965G>C | GRCh37 |
| NC_000004.10:g.155727415G>C | NCBI36 |
| NG_008832.1:g.8933C>G , LRG_557:g.8933C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.616C>G | ENSP00000498441.1:p.Gln206Glu | |
| ENST00000403106.8:c.616C>G MANE Select | ENSP00000385981.3:p.Gln206Glu | |
| ENST00000651975.1:c.616C>G | ENSP00000498441.1:p.Gln206Glu | |
| ENST00000302053.7:c.616C>G | ENSP00000306361.3:p.Gln206Glu | |
| ENST00000403106.7:c.616C>G | ENSP00000385981.3:p.Gln206Glu | |
| ENST00000622532.1:c.616C>G | ENSP00000478487.1:p.Gln206Glu | |
| NM_000508.3:c.616C>G , LRG_557t1:c.616C>G | NP_000499.1:p.Gln206Glu | |
| NM_021871.2:c.616C>G , LRG_557t2:c.616C>G | NP_068657.1:p.Gln206Glu | |
| NM_000508.4:c.616C>G | NP_000499.1:p.Gln206Glu | |
| NM_021871.3:c.616C>G | NP_068657.1:p.Gln206Glu | |
| NM_021871.4:c.616C>G MANE Select | NP_068657.1:p.Gln206Glu | |
| NM_000508.5:c.616C>G | NP_000499.1:p.Gln206Glu |