Linked Data
dbSNP Id:
rs143862488
MyVariant Identifiers:
chr12:g.115112746_115112747insGG (hg19)
chr12:g.114674941_114674942insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674942_114674943insGG , CM000674.2:g.114674942_114674943insGG | GRCh38 |
| NC_000012.11:g.115112747_115112748insGG , CM000674.1:g.115112747_115112748insGG | GRCh37 |
| NC_000012.10:g.113597130_113597131insGG | NCBI36 |
| NG_008315.1:g.14223_14224insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1040-107_1040-106insCC MANE Select | ENSP00000257567.2:n.1040-107_1040-106insCC | |
| ENST00000257566.7:c.1100-107_1100-106insCC | ENSP00000257566.3:n.1100-107_1100-106insCC | |
| ENST00000349155.6:c.1040-107_1040-106insCC | ENSP00000257567.2:n.1040-107_1040-106insCC | |
| ENST00000613550.1:c.1040-107_1040-106insCC | ENSP00000480048.1:n.1040-107_1040-106insCC | |
| NM_005996.3:c.1040-107_1040-106insCC | NP_005987.3:n.1040-107_1040-106insCC | |
| NM_016569.3:c.1100-107_1100-106insCC | NP_057653.3:n.1100-107_1100-106insCC | |
| NM_005996.4:c.1040-107_1040-106insCC MANE Select | NP_005987.3:n.1040-107_1040-106insCC | |
| NM_016569.4:c.1100-107_1100-106insCC | NP_057653.3:n.1100-107_1100-106insCC |