Linked Data
ClinVar Variation Id:
347808
dbSNP Id:
rs370873387
ExAC:
4:155506758 C / G
gnomAD v2:
4-155506758-C-G
gnomAD v3:
4-154585606-C-G
gnomAD v4:
4-154585606-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154585606C>G , CM000666.2:g.154585606C>G | GRCh38 |
| NC_000004.11:g.155506758C>G , CM000666.1:g.155506758C>G | GRCh37 |
| NC_000004.10:g.155726208C>G | NCBI36 |
| NG_008832.1:g.10140G>C , LRG_557:g.10140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.1823G>C | ENSP00000498441.1:p.Gly608Ala | |
| ENST00000403106.8:c.1823G>C MANE Select | ENSP00000385981.3:p.Gly608Ala | |
| ENST00000651975.1:c.1823G>C | ENSP00000498441.1:p.Gly608Ala | |
| ENST00000302053.7:c.1823G>C | ENSP00000306361.3:p.Gly608Ala | |
| ENST00000403106.7:c.1823G>C | ENSP00000385981.3:p.Gly608Ala | |
| ENST00000622532.1:c.748G>C | ENSP00000478487.1:p.Glu250Gln | |
| NM_000508.3:c.1823G>C , LRG_557t1:c.1823G>C | NP_000499.1:p.Gly608Ala | |
| NM_021871.2:c.1823G>C , LRG_557t2:c.1823G>C | NP_068657.1:p.Gly608Ala | |
| NM_000508.4:c.1823G>C | NP_000499.1:p.Gly608Ala | |
| NM_021871.3:c.1823G>C | NP_068657.1:p.Gly608Ala | |
| NM_021871.4:c.1823G>C MANE Select | NP_068657.1:p.Gly608Ala | |
| NM_000508.5:c.1823G>C | NP_000499.1:p.Gly608Ala |