Linked Data
ClinVar Variation Id:
2151510
ClinVar RCV Id:
RCV003078907
dbSNP Id:
rs750264224
gnomAD v2:
2-241813421-C-G
gnomAD v3:
2-240874004-C-G
gnomAD v4:
2-240874004-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874004C>G , CM000664.2:g.240874004C>G | GRCh38 |
| NC_000002.11:g.241813421C>G , CM000664.1:g.241813421C>G | GRCh37 |
| NC_000002.10:g.241462094C>G | NCBI36 |
| NG_008005.1:g.10260C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.622C>G MANE Select | ENSP00000302620.3:p.Gln208Glu | |
| ENST00000307503.3:c.622C>G | ENSP00000302620.3:p.Gln208Glu | |
| ENST00000476698.1:n.332+955C>G | ||
| NM_000030.2:c.622C>G | NP_000021.1:p.Gln208Glu | |
| NM_000030.3:c.622C>G MANE Select | NP_000021.1:p.Gln208Glu |