Linked Data
dbSNP Id:
rs757757145
ExAC:
1:15772057 G / GT
gnomAD v2:
1-15772057-G-GT
gnomAD v3:
1-15445562-G-GT
gnomAD v4:
1-15445562-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445562_15445563insT , CM000663.2:g.15445562_15445563insT | GRCh38 |
| NC_000001.10:g.15772057_15772058insT , CM000663.1:g.15772057_15772058insT | GRCh37 |
| NC_000001.9:g.15644644_15644645insT | NCBI36 |
| NG_009253.1:g.12120_12121insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.640-35_640-34insT MANE Select | ENSP00000365116.4:n.640-35_640-34insT | |
| ENST00000375943.6:c.*94-35_*94-34insT | ENSP00000365110.2:n.*94-35_*94-34insT | |
| ENST00000375949.4:c.640-35_640-34insT | ENSP00000365116.4:n.640-35_640-34insT | |
| ENST00000483406.1:n.404-35_404-34insT | ||
| NM_007272.2:c.640-35_640-34insT | NP_009203.2:n.640-35_640-34insT | |
| XM_011540550.1:c.494-35_494-34insT | XP_011538852.1:n.494-35_494-34insT | |
| NM_007272.3:c.640-35_640-34insT MANE Select | NP_009203.2:n.640-35_640-34insT |