Linked Data
dbSNP Id:
rs1565218344
gnomAD v2:
11-67352127-C-T
gnomAD v4:
11-67584656-C-T
MyVariant Identifiers:
chr11:g.67352127_67352142delinsTCCTCCCTGAGCCATG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584656C>T , CM000673.2:g.67584656C>T | GRCh38 |
| NC_000011.9:g.67352127C>T , CM000673.1:g.67352127C>T | GRCh37 |
| NC_000011.8:g.67108703C>T | NCBI36 |
| NG_012075.1:g.6062C>T , LRG_723:g.6062C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.145-29C>T | ENSP00000381604.1:n.145-29C>T | |
| ENST00000398606.10:c.145-29C>T MANE Select | ENSP00000381607.3:n.145-29C>T | |
| ENST00000646888.1:c.38-29C>T | ENSP00000494477.1:n.38-29C>T | |
| ENST00000398603.5:c.145-29C>T | ENSP00000381604.1:n.145-29C>T | |
| ENST00000398606.7:c.145-29C>T | ENSP00000381607.3:n.145-29C>T | |
| ENST00000489040.1:n.144-29C>T | ||
| ENST00000494593.1:n.546C>T | ||
| ENST00000498765.5:c.108-29C>T | ||
| NM_000852.3:c.145-29C>T , LRG_723t1:c.145-29C>T | NP_000843.1:n.145-29C>T | |
| NM_000852.4:c.145-29C>T MANE Select | NP_000843.1:n.145-29C>T |