Linked Data
dbSNP Id:
rs1762499366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1609934_1609935del , CM000668.2:g.1609934_1609935del | GRCh38 |
| NC_000006.11:g.1610169_1610170del , CM000668.1:g.1610169_1610170del | GRCh37 |
| NC_000006.10:g.1555168_1555169del | NCBI36 |
| NG_009368.1:g.4489_4490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-512_-511del MANE Select | ENSP00000493906.1:n.-512_-511del | |
| NM_001453.3:c.-512_-511del MANE Select | NP_001444.2:n.-512_-511del |