Linked Data
ClinVar Variation Id:
204114
ClinVar RCV Id:
RCV000186320
dbSNP Id:
rs796052062
gnomAD v4:
2-240873049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873049G>A , CM000664.2:g.240873049G>A | GRCh38 |
| NC_000002.11:g.241812466G>A , CM000664.1:g.241812466G>A | GRCh37 |
| NC_000002.10:g.241461139G>A | NCBI36 |
| NG_008005.1:g.9305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595G>A MANE Select | ENSP00000302620.3:p.Gly199Ser | |
| ENST00000307503.3:c.595G>A | ENSP00000302620.3:p.Gly199Ser | |
| ENST00000472436.1:n.615G>A | ||
| ENST00000476698.1:n.332G>A | ||
| NM_000030.2:c.595G>A | NP_000021.1:p.Gly199Ser | |
| NM_000030.3:c.595G>A MANE Select | NP_000021.1:p.Gly199Ser |