Linked Data
dbSNP Id:
rs74315508
gnomAD v2:
22-20230301-G-C
gnomAD v3:
22-20242778-G-C
gnomAD v4:
22-20242778-G-C
COSMIC:
COSM5415695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242778G>C , CM000684.2:g.20242778G>C | GRCh38 |
| NC_000022.10:g.20230301G>C , CM000684.1:g.20230301G>C | GRCh37 |
| NC_000022.9:g.18610301G>C | NCBI36 |
| NG_012176.1:g.30516C>G | |
| NG_012176.2:g.30516C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000043402.8:c.355C>G MANE Select | ENSP00000043402.7:p.Arg119Gly | |
| ENST00000043402.7:c.355C>G | ENSP00000043402.7:p.Arg119Gly | |
| ENST00000416372.5:c.414C>G | ||
| ENST00000425986.1:c.612C>G | ||
| ENST00000469601.1:n.491C>G | ||
| NM_023004.5:c.355C>G | NP_075380.1:p.Arg119Gly | |
| NM_023004.6:c.355C>G MANE Select | NP_075380.1:p.Arg119Gly |