Linked Data
ClinVar Variation Id:
552979
dbSNP Id:
rs121908530
gnomAD v3:
2-240871391-G-C
gnomAD v4:
2-240871391-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871391G>C , CM000664.2:g.240871391G>C | GRCh38 |
| NC_000002.11:g.241810808G>C , CM000664.1:g.241810808G>C | GRCh37 |
| NC_000002.10:g.241459481G>C | NCBI36 |
| NG_008005.1:g.7647G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.466G>C MANE Select | ENSP00000302620.3:p.Gly156Arg | |
| ENST00000307503.3:c.466G>C | ENSP00000302620.3:p.Gly156Arg | |
| ENST00000472436.1:n.486G>C | ||
| ENST00000476698.1:n.203G>C | ||
| NM_000030.2:c.466G>C | NP_000021.1:p.Gly156Arg | |
| NM_000030.3:c.466G>C MANE Select | NP_000021.1:p.Gly156Arg |