Linked Data
dbSNP Id:
rs753279434
ExAC:
18:74980508 C / CCTT
gnomAD v2:
18-74980508-C-CCTT
gnomAD v3:
18-77268552-C-CCTT
gnomAD v4:
18-77268552-C-CCTT
MyVariant Identifiers:
chr18:g.74980508_74980509insCTT (hg19)
chr18:g.77268552_77268553insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268554_77268555insTCT , CM000680.2:g.77268554_77268555insTCT | GRCh38 |
| NC_000018.9:g.74980510_74980511insTCT , CM000680.1:g.74980510_74980511insTCT | GRCh37 |
| NC_000018.8:g.73109498_73109499insTCT | NCBI36 |
| NG_009223.1:g.23503_23504insTCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-31_733-30insTCT MANE Select | ENSP00000299727.3:n.733-31_733-30insTCT | |
| ENST00000299727.4:c.733-31_733-30insTCT | ENSP00000299727.3:n.733-31_733-30insTCT | |
| NM_001480.3:c.733-31_733-30insTCT | NP_001471.2:n.733-31_733-30insTCT | |
| NM_001480.4:c.733-31_733-30insTCT MANE Select | NP_001471.2:n.733-31_733-30insTCT |