Linked Data
dbSNP Id:
rs1023858128
gnomAD v2:
4-4864467-A-G
gnomAD v4:
4-4862740-A-G
COSMIC:
COSM3300669
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862740A>G , CM000666.2:g.4862740A>G | GRCh38 |
| NC_000004.11:g.4864467A>G , CM000666.1:g.4864467A>G | GRCh37 |
| NC_000004.10:g.4915368A>G | NCBI36 |
| NG_008121.1:g.8076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.509A>G MANE Select | ENSP00000372170.4:p.Lys170Arg | |
| ENST00000382723.4:c.509A>G | ENSP00000372170.4:p.Lys170Arg | |
| ENST00000468421.1:n.221A>G | ||
| NM_002448.3:c.509A>G MANE Select | NP_002439.2:p.Lys170Arg |