Linked Data
ClinVar Variation Id:
347807
dbSNP Id:
rs201686865
ExAC:
4:155506743 T / C
gnomAD v2:
4-155506743-T-C
gnomAD v3:
4-154585591-T-C
gnomAD v4:
4-154585591-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154585591T>C , CM000666.2:g.154585591T>C | GRCh38 |
| NC_000004.11:g.155506743T>C , CM000666.1:g.155506743T>C | GRCh37 |
| NC_000004.10:g.155726193T>C | NCBI36 |
| NG_008832.1:g.10155A>G , LRG_557:g.10155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.1838A>G | ENSP00000498441.1:p.His613Arg | |
| ENST00000403106.8:c.1838A>G MANE Select | ENSP00000385981.3:p.His613Arg | |
| ENST00000651975.1:c.1838A>G | ENSP00000498441.1:p.His613Arg | |
| ENST00000302053.7:c.1838A>G | ENSP00000306361.3:p.His613Arg | |
| ENST00000403106.7:c.1838A>G | ENSP00000385981.3:p.His613Arg | |
| ENST00000622532.1:c.763A>G | ENSP00000478487.1:p.Met255Val | |
| NM_000508.3:c.1838A>G , LRG_557t1:c.1838A>G | NP_000499.1:p.His613Arg | |
| NM_021871.2:c.1838A>G , LRG_557t2:c.1838A>G | NP_068657.1:p.His613Arg | |
| NM_000508.4:c.1838A>G | NP_000499.1:p.His613Arg | |
| NM_021871.3:c.1838A>G | NP_068657.1:p.His613Arg | |
| NM_021871.4:c.1838A>G MANE Select | NP_068657.1:p.His613Arg | |
| NM_000508.5:c.1838A>G | NP_000499.1:p.His613Arg |