Linked Data
ClinVar Variation Id:
188898
ClinVar RCV Id:
RCV000169258
dbSNP Id:
rs786204545
gnomAD v3:
2-240875180-G-A
gnomAD v4:
2-240875180-G-A
PubMed:
PMID:15110324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875180G>A , CM000664.2:g.240875180G>A | GRCh38 |
| NC_000002.11:g.241814597G>A , CM000664.1:g.241814597G>A | GRCh37 |
| NC_000002.10:g.241463270G>A | NCBI36 |
| NG_008005.1:g.11436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.752G>A MANE Select | ENSP00000302620.3:p.Trp251Ter | |
| ENST00000307503.3:c.752G>A | ENSP00000302620.3:p.Trp251Ter | |
| ENST00000476698.1:n.404G>A | ||
| NM_000030.2:c.752G>A | NP_000021.1:p.Trp251Ter | |
| NM_000030.3:c.752G>A MANE Select | NP_000021.1:p.Trp251Ter |