Linked Data
dbSNP Id:
rs932098716
gnomAD v4:
1-193142115-G-A
MyVariant Identifiers:
chr1:g.193142115G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142115G>A , CM000663.2:g.193142115G>A | GRCh38 |
| NC_000001.10:g.193111245G>A , CM000663.1:g.193111245G>A | GRCh37 |
| NC_000001.9:g.191377868G>A | NCBI36 |
| NG_012691.1:g.25158G>A , LRG_507:g.25158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.729+49G>A MANE Select | ENSP00000356405.4:n.729+49G>A | |
| ENST00000635846.1:c.729+49G>A | ENSP00000490035.1:n.729+49G>A | |
| ENST00000643006.1:c.729+49G>A | ENSP00000496633.1:n.729+49G>A | |
| ENST00000643784.1:c.*205+49G>A | ENSP00000494944.1:n.*205+49G>A | |
| ENST00000647662.1:n.630+49G>A | ||
| ENST00000648071.1:c.*705+49G>A | ENSP00000497513.1:n.*705+49G>A | |
| ENST00000649606.1:n.742+49G>A | ||
| ENST00000649895.1:n.947+49G>A | ||
| ENST00000650197.1:c.729+49G>A | ENSP00000496929.1:n.729+49G>A | |
| ENST00000367435.3:c.729+49G>A | ENSP00000356405.3:n.729+49G>A | |
| NM_024529.4:c.729+49G>A , LRG_507t1:c.729+49G>A | NP_078805.3:n.729+49G>A | |
| XM_006711537.2:c.729+49G>A | XP_006711600.1:n.729+49G>A | |
| XM_006711537.4:c.729+49G>A | XP_006711600.1:n.729+49G>A | |
| NM_024529.5:c.729+49G>A MANE Select | NP_078805.3:n.729+49G>A |