Linked Data
ClinVar Variation Id:
2740888
ClinVar RCV Id:
RCV003589123
dbSNP Id:
rs1579910171
gnomAD v4:
5-45461830-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461830A>T , CM000667.2:g.45461830A>T | GRCh38 |
| NC_000005.9:g.45461932A>T , CM000667.1:g.45461932A>T | GRCh37 |
| NC_000005.8:g.45497689A>T | NCBI36 |
| NG_042183.1:g.239289T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.1011+16T>A MANE Select | ENSP00000307342.4:n.1011+16T>A | |
| ENST00000637305.1:n.174+16T>A | ||
| ENST00000673735.1:c.1011+16T>A | ENSP00000501107.1:n.1011+16T>A | |
| ENST00000303230.5:c.1011+16T>A | ENSP00000307342.4:n.1011+16T>A | |
| NM_021072.3:c.1011+16T>A | NP_066550.2:n.1011+16T>A | |
| NM_021072.4:c.1011+16T>A MANE Select | NP_066550.2:n.1011+16T>A |