Linked Data
dbSNP Id:
rs754548414
ExAC:
18:74980509 C / CTCT
gnomAD v2:
18-74980509-C-CTCT
gnomAD v4:
18-77268553-C-CTCT
MyVariant Identifiers:
chr18:g.74980509_74980510insTCT (hg19)
chr18:g.77268553_77268554insTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268555_77268556insTTC , CM000680.2:g.77268555_77268556insTTC | GRCh38 |
| NC_000018.9:g.74980511_74980512insTTC , CM000680.1:g.74980511_74980512insTTC | GRCh37 |
| NC_000018.8:g.73109499_73109500insTTC | NCBI36 |
| NG_009223.1:g.23504_23505insTTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-30_733-29insTTC MANE Select | ENSP00000299727.3:n.733-30_733-29insTTC | |
| ENST00000299727.4:c.733-30_733-29insTTC | ENSP00000299727.3:n.733-30_733-29insTTC | |
| NM_001480.3:c.733-30_733-29insTTC | NP_001471.2:n.733-30_733-29insTTC | |
| NM_001480.4:c.733-30_733-29insTTC MANE Select | NP_001471.2:n.733-30_733-29insTTC |