Linked Data
ClinVar Variation Id:
379707
ClinVar RCV Id:
RCV000429997
dbSNP Id:
rs1057520702
gnomAD v4:
1-220138044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220138044G>A , CM000663.2:g.220138044G>A | GRCh38 |
| NC_000001.10:g.220311386G>A , CM000663.1:g.220311386G>A | GRCh37 |
| NC_000001.9:g.218378009G>A | NCBI36 |
| NG_041799.1:g.48932G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366922.3:c.2175+1G>A MANE Select | ENSP00000355889.2:n.2175+1G>A | |
| ENST00000366922.2:c.2175+1G>A | ENSP00000355889.2:n.2175+1G>A | |
| ENST00000488777.1:n.402+1G>A | ||
| NM_018060.3:c.2175+1G>A | NP_060530.3:n.2175+1G>A | |
| NM_018060.4:c.2175+1G>A MANE Select | NP_060530.3:n.2175+1G>A |