Linked Data
dbSNP Id:
rs1567530487
gnomAD v2:
16-67470052-G-T
gnomAD v4:
16-67436149-G-T
MyVariant Identifiers:
chr16:g.67470052_67470053delinsTC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436149G>T , CM000678.2:g.67436149G>T | GRCh38 |
| NC_000016.9:g.67470052G>T , CM000678.1:g.67470052G>T | GRCh37 |
| NC_000016.8:g.66027553G>T | NCBI36 |
| NG_011482.1:g.50038C>A | |
| NG_016549.1:g.10017G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.664+7G>T MANE Select | ENSP00000316786.5:n.664+7G>T | |
| ENST00000326152.5:c.664+7G>T | ENSP00000316786.5:n.664+7G>T | |
| ENST00000567684.2:n.527+7G>T | ||
| NM_000196.3:c.664+7G>T | NP_000187.3:n.664+7G>T | |
| NM_000196.4:c.664+7G>T MANE Select | NP_000187.3:n.664+7G>T |