Linked Data
dbSNP Id:
rs1568399162
gnomAD v2:
19-7592647-T-G
gnomAD v4:
19-7527761-T-G
MyVariant Identifiers:
chr19:g.7592647_7592648delinsGC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527761T>G , CM000681.2:g.7527761T>G | GRCh38 |
| NC_000019.9:g.7592647T>G , CM000681.1:g.7592647T>G | GRCh37 |
| NC_000019.8:g.7498647T>G | NCBI36 |
| NG_015806.1:g.10152T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.681-103T>G MANE Select | ENSP00000264079.5:n.681-103T>G | |
| ENST00000264079.10:c.681-103T>G | ENSP00000264079.5:n.681-103T>G | |
| ENST00000394321.9:n.893T>G | ||
| ENST00000598406.1:n.634T>G | ||
| ENST00000601003.1:c.572-103T>G | ENSP00000469074.1:n.572-103T>G | |
| NM_020533.2:c.681-103T>G | NP_065394.1:n.681-103T>G | |
| NM_020533.3:c.681-103T>G MANE Select | NP_065394.1:n.681-103T>G |