Linked Data
dbSNP Id:
rs1423773210
gnomAD v2:
12-103245247-A-AT
gnomAD v3:
12-102851469-A-AT
gnomAD v4:
12-102851469-A-AT
MyVariant Identifiers:
chr12:g.103245247_103245248insT (hg19)
chr12:g.102851469_102851470insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851470dup , CM000674.2:g.102851470dup | GRCh38 |
| NC_000012.11:g.103245248dup , CM000674.1:g.103245248dup | GRCh37 |
| NC_000012.10:g.101769378dup | NCBI36 |
| NG_008690.1:g.71133dup | |
| NG_008690.2:g.111941dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.912+217dup MANE Select | ENSP00000448059.1:n.912+217dup | |
| ENST00000307000.7:c.897+217dup | ENSP00000303500.2:n.897+217dup | |
| ENST00000549247.6:n.671+217dup | ||
| ENST00000551114.2:n.574+217dup | ||
| ENST00000553106.5:c.912+217dup | ENSP00000448059.1:n.912+217dup | |
| ENST00000635477.1:c.73+217dup | ||
| NM_000277.1:c.912+217dup | NP_000268.1:n.912+217dup | |
| XM_011538422.1:c.912+217dup | XP_011536724.1:n.912+217dup | |
| NM_000277.2:c.912+217dup | NP_000268.1:n.912+217dup | |
| NM_001354304.1:c.912+217dup | NP_001341233.1:n.912+217dup | |
| NM_000277.3:c.912+217dup MANE Select | NP_000268.1:n.912+217dup | |
| NM_001354304.2:c.912+217dup | NP_001341233.1:n.912+217dup |