Linked Data
dbSNP Id:
rs1308849057
gnomAD v3:
12-124549449-G-GA
gnomAD v4:
12-124549449-G-GA
MyVariant Identifiers:
chr12:g.125033995_125033996insA (hg19)
chr12:g.124549449_124549450insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124549449_124549450insA , CM000674.2:g.124549449_124549450insA | GRCh38 |
| NC_000012.11:g.125033995_125033996insA , CM000674.1:g.125033995_125033996insA | GRCh37 |
| NC_000012.10:g.123599948_123599949insA | NCBI36 |
| NG_022928.2:g.23015_23016insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405201.6:c.-164-13839_-164-13838insT MANE Select | ENSP00000384018.1:n.-164-13839_-164-13838insT | |
| ENST00000458234.5:c.-164-13839_-164-13838insT | ENSP00000402808.1:n.-164-13839_-164-13838insT | |
| ENST00000542565.1:n.283-13839_283-13838insT | ||
| NM_001077261.3:c.-164-13839_-164-13838insT | NP_001070729.2:n.-164-13839_-164-13838insT | |
| NM_001206654.1:c.-164-13839_-164-13838insT | NP_001193583.1:n.-164-13839_-164-13838insT | |
| NM_006312.5:c.-164-13839_-164-13838insT | NP_006303.4:n.-164-13839_-164-13838insT | |
| NM_001077261.4:c.-164-13839_-164-13838insT | NP_001070729.2:n.-164-13839_-164-13838insT | |
| NM_001206654.2:c.-164-13839_-164-13838insT | NP_001193583.1:n.-164-13839_-164-13838insT | |
| NM_006312.6:c.-164-13839_-164-13838insT MANE Select | NP_006303.4:n.-164-13839_-164-13838insT |