Linked Data
dbSNP Id:
rs1200879795
gnomAD v3:
12-120739393-G-GC
gnomAD v4:
12-120739393-G-GC
MyVariant Identifiers:
chr12:g.121177196_121177197insC (hg19)
chr12:g.120739393_120739394insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739394dup , CM000674.2:g.120739394dup | GRCh38 |
| NC_000012.11:g.121177197dup , CM000674.1:g.121177197dup | GRCh37 |
| NC_000012.10:g.119661580dup | NCBI36 |
| NG_007991.1:g.18627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1185dup MANE Select | ENSP00000242592.4:p.Glu396ArgfsTer? | |
| ENST00000242592.8:c.1185dup | ENSP00000242592.4:p.Glu396ArgfsTer? | |
| ENST00000411593.2:c.1173dup | ENSP00000401045.2:p.Glu392ArgfsTer? | |
| NM_000017.3:c.1185dup | NP_000008.1:p.Glu396ArgfsTer? | |
| NM_001302554.1:c.1173dup | NP_001289483.1:p.Glu392ArgfsTer? | |
| NM_000017.4:c.1185dup MANE Select | NP_000008.1:p.Glu396ArgfsTer? | |
| NM_001302554.2:c.1173dup | NP_001289483.1:p.Glu392ArgfsTer? |