Linked Data
dbSNP Id:
rs1565775673
gnomAD v2:
12-53701262-C-T
gnomAD v4:
12-53307478-C-T
MyVariant Identifiers:
chr12:g.53701262_53701266delinsTTTAT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307478C>T , CM000674.2:g.53307478C>T | GRCh38 |
| NC_000012.11:g.53701262C>T , CM000674.1:g.53701262C>T | GRCh37 |
| NC_000012.10:g.51987529C>T | NCBI36 |
| NG_016775.1:g.19151G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.*11G>A MANE Select | ENSP00000209873.4:n.*11G>A | |
| ENST00000547757.2:c.*570G>A | ENSP00000448020.2:n.*570G>A | |
| ENST00000548931.6:c.1087G>A | ENSP00000457518.1:n.1087G>A | |
| ENST00000549450.6:n.1586G>A | ||
| ENST00000209873.8:c.*11G>A | ENSP00000209873.4:n.*11G>A | |
| ENST00000394384.7:c.*11G>A | ENSP00000377908.3:n.*11G>A | |
| ENST00000550286.5:c.*11G>A | ENSP00000446885.1:n.*11G>A | |
| ENST00000552876.5:n.1995G>A | ||
| NM_001173466.1:c.*11G>A | NP_001166937.1:n.*11G>A | |
| NM_015665.5:c.*11G>A | NP_056480.1:n.*11G>A | |
| XM_006719617.2:c.*11G>A | XP_006719680.1:n.*11G>A | |
| XM_011538777.1:c.*11G>A | XP_011537079.1:n.*11G>A | |
| XM_011538778.1:c.*11G>A | XP_011537080.1:n.*11G>A | |
| XM_011538779.1:c.*11G>A | XP_011537081.1:n.*11G>A | |
| XM_011538780.1:c.*11G>A | XP_011537082.1:n.*11G>A | |
| XM_011538781.1:c.*11G>A | XP_011537083.1:n.*11G>A | |
| XM_011538778.2:c.*11G>A | XP_011537080.1:n.*11G>A | |
| XM_011538780.2:c.*11G>A | XP_011537082.1:n.*11G>A | |
| NM_015665.6:c.*11G>A MANE Select | NP_056480.1:n.*11G>A | |
| NM_001173466.2:c.*11G>A | NP_001166937.1:n.*11G>A |