Linked Data
ClinVar Variation Id:
3005000
ClinVar RCV Id:
RCV003861103
dbSNP Id:
rs778257948
ExAC:
1:94467406 G / A
gnomAD v2:
1-94467406-G-A
gnomAD v4:
1-94001850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001850G>A , CM000663.2:g.94001850G>A | GRCh38 |
| NC_000001.10:g.94467406G>A , CM000663.1:g.94467406G>A | GRCh37 |
| NC_000001.9:g.94239994G>A | NCBI36 |
| NG_009073.1:g.124300C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6282+8C>T MANE Select | ENSP00000359245.3:n.6282+8C>T | |
| ENST00000370225.3:c.6282+8C>T | ENSP00000359245.3:n.6282+8C>T | |
| ENST00000465352.1:n.706C>T | ||
| ENST00000536513.5:c.2658+8C>T | ENSP00000439707.2:n.2658+8C>T | |
| NM_000350.2:c.6282+8C>T | NP_000341.2:n.6282+8C>T | |
| NM_000350.3:c.6282+8C>T MANE Select | NP_000341.2:n.6282+8C>T |