Linked Data
dbSNP Id:
rs1406233831
gnomAD v2:
4-186065961-A-G
gnomAD v3:
4-185144807-A-G
gnomAD v4:
4-185144807-A-G
COSMIC:
COSM4123716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144807A>G , CM000666.2:g.185144807A>G | GRCh38 |
| NC_000004.11:g.186065961A>G , CM000666.1:g.186065961A>G | GRCh37 |
| NC_000004.10:g.186302955A>G | NCBI36 |
| NG_013001.1:g.6545A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.155A>G MANE Select | ENSP00000281456.5:p.Lys52Arg | |
| ENST00000281456.10:c.155A>G | ENSP00000281456.5:p.Lys52Arg | |
| ENST00000491736.1:c.155A>G | ENSP00000476711.1:p.Lys52Arg | |
| NM_001151.3:c.155A>G | NP_001142.2:p.Lys52Arg | |
| NM_001151.4:c.155A>G MANE Select | NP_001142.2:p.Lys52Arg |