Linked Data
dbSNP Id:
rs752583128
ExAC:
1:168262564 T / G
gnomAD v4:
1-168293326-T-G
MyVariant Identifiers:
chr1:g.168262564T>G (hg19)
chr1:g.168262564_168262566delinsGAA (hg19)
chr1:g.168293326T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293326T>G , CM000663.2:g.168293326T>G | GRCh38 |
| NC_000001.10:g.168262564T>G , CM000663.1:g.168262564T>G | GRCh37 |
| NC_000001.9:g.166529188T>G | NCBI36 |
| NG_008244.1:g.17287T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.603+48T>G MANE Select | ENSP00000356795.3:n.603+48T>G | |
| ENST00000367821.7:c.603+48T>G | ENSP00000356795.3:n.603+48T>G | |
| ENST00000431969.5:c.400+48T>G | ||
| NM_005149.2:c.603+48T>G | NP_005140.1:n.603+48T>G | |
| NM_005149.3:c.603+48T>G MANE Select | NP_005140.1:n.603+48T>G |