Linked Data
dbSNP Id:
rs778483568
ExAC:
18:29172905 C / CAG
gnomAD v2:
18-29172905-C-CAG
gnomAD v4:
18-31592942-C-CAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592942_31592943insAG , CM000680.2:g.31592942_31592943insAG | GRCh38 |
| NC_000018.9:g.29172905_29172906insAG , CM000680.1:g.29172905_29172906insAG | GRCh37 |
| NC_000018.8:g.27426903_27426904insAG | NCBI36 |
| NG_009490.1:g.6176_6177insAG , LRG_416:g.6176_6177insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.116_117insAG MANE Select | ENSP00000237014.4:p.Arg41SerfsTer? | |
| ENST00000610404.5:c.20_21insAG | ENSP00000477599.2:p.Arg9SerfsTer? | |
| ENST00000649620.1:c.116_117insAG | ENSP00000497927.1:p.Arg41SerfsTer? | |
| ENST00000237014.7:c.116_117insAG | ENSP00000237014.3:p.Arg41SerfsTer? | |
| ENST00000432547.7:n.142_143insAG | ||
| ENST00000541025.2:n.142_143insAG | ||
| ENST00000610404.4:c.116_117insAG | ENSP00000477599.1:p.Arg41SerfsTer? | |
| ENST00000613781.1:c.116_117insAG | ENSP00000479174.1:p.Arg41SerfsTer? | |
| NM_000371.3:c.116_117insAG , LRG_416t1:c.116_117insAG | NP_000362.1:p.Arg41SerfsTer? | |
| NM_000371.4:c.116_117insAG MANE Select | NP_000362.1:p.Arg41SerfsTer? |