Linked Data
dbSNP Id:
rs867506667
gnomAD v4:
1-17348292-C-G
MyVariant Identifiers:
chr1:g.17348292C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17348292C>G , CM000663.2:g.17348292C>G | GRCh38 |
| NC_000001.10:g.17674787C>G , CM000663.1:g.17674787C>G | GRCh37 |
| NC_000001.9:g.17547374C>G | NCBI36 |
| NG_023261.2:g.45103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1155+244C>G MANE Select | ENSP00000364597.4:n.1155+244C>G | |
| ENST00000487048.5:n.122+244C>G | ||
| NM_012387.2:c.1155+244C>G | NP_036519.2:n.1155+244C>G | |
| XM_011541150.1:c.969+244C>G | XP_011539452.1:n.969+244C>G | |
| XM_011541151.1:c.1155+244C>G | XP_011539453.1:n.1155+244C>G | |
| XM_011541152.1:c.618+244C>G | XP_011539454.1:n.618+244C>G | |
| XM_011541153.1:c.1155+244C>G | XP_011539455.1:n.1155+244C>G | |
| XM_011541154.1:c.1155+244C>G | XP_011539456.1:n.1155+244C>G | |
| XM_011541155.1:c.1155+244C>G | XP_011539457.1:n.1155+244C>G | |
| XM_011541156.1:c.1155+244C>G | XP_011539458.1:n.1155+244C>G | |
| XM_011541157.1:c.264+244C>G | XP_011539459.1:n.264+244C>G | |
| XM_011541154.2:c.1155+244C>G | XP_011539456.1:n.1155+244C>G | |
| NM_012387.3:c.1155+244C>G MANE Select | NP_036519.2:n.1155+244C>G |