Linked Data
ClinVar Variation Id:
2969258
ClinVar RCV Id:
RCV003826928
dbSNP Id:
rs957371956
gnomAD v2:
1-94494981-G-A
gnomAD v3:
1-94029425-G-A
gnomAD v4:
1-94029425-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029425G>A , CM000663.2:g.94029425G>A | GRCh38 |
| NC_000001.10:g.94494981G>A , CM000663.1:g.94494981G>A | GRCh37 |
| NC_000001.9:g.94267569G>A | NCBI36 |
| NG_009073.1:g.96725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4539+20C>T MANE Select | ENSP00000359245.3:n.4539+20C>T | |
| ENST00000370225.3:c.4539+20C>T | ENSP00000359245.3:n.4539+20C>T | |
| ENST00000536513.5:c.915+20C>T | ENSP00000439707.2:n.915+20C>T | |
| NM_000350.2:c.4539+20C>T | NP_000341.2:n.4539+20C>T | |
| NM_000350.3:c.4539+20C>T MANE Select | NP_000341.2:n.4539+20C>T |