Linked Data
dbSNP Id:
rs1565688311
gnomAD v2:
11-118897676-A-G
gnomAD v4:
11-119026966-A-G
MyVariant Identifiers:
chr11:g.118897676A>G (hg19)
chr11:g.118897676_118897677delinsGT (hg19)
chr11:g.119026966A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026966A>G , CM000673.2:g.119026966A>G | GRCh38 |
| NC_000011.9:g.118897676A>G , CM000673.1:g.118897676A>G | GRCh37 |
| NC_000011.8:g.118402886A>G | NCBI36 |
| NG_013331.1:g.8940T>C , LRG_187:g.8940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.985T>C | ||
| ENST00000697845.1:n.909T>C | ||
| ENST00000697846.1:n.985T>C | ||
| ENST00000697847.1:n.985T>C | ||
| ENST00000697848.1:n.985T>C | ||
| ENST00000697849.1:n.2024T>C | ||
| ENST00000697850.1:n.985T>C | ||
| ENST00000697851.1:n.2345T>C | ||
| ENST00000638186.1:n.1059T>C | ||
| ENST00000638360.1:n.891T>C | ||
| ENST00000638925.1:n.992T>C | ||
| ENST00000650539.1:n.1161T>C | ||
| ENST00000330775.9:c.755T>C | ENSP00000476242.2:p.Ile252Thr | |
| ENST00000357590.9:c.755T>C | ENSP00000476176.2:p.Ile252Thr | |
| ENST00000524428.5:n.1077T>C | ||
| ENST00000525039.5:n.1179T>C | ||
| ENST00000525102.5:n.1513T>C | ||
| ENST00000525372.5:n.756T>C | ||
| ENST00000526275.5:n.1537T>C | ||
| ENST00000526626.6:n.718T>C | ||
| ENST00000527992.5:n.983T>C | ||
| ENST00000529510.5:n.529T>C | ||
| ENST00000530407.5:n.905T>C | ||
| ENST00000532085.1:n.3366T>C | ||
| ENST00000532888.6:n.1051T>C | ||
| ENST00000538950.5:c.536T>C | ENSP00000475991.2:p.Ile179Thr | |
| ENST00000545985.5:c.755T>C | ENSP00000475241.2:p.Ile252Thr | |
| NM_001164277.1:c.755T>C , LRG_187t1:c.755T>C | NP_001157749.1:p.Ile252Thr | |
| NM_001164278.1:c.755T>C | NP_001157750.1:p.Ile252Thr | |
| NM_001164279.1:c.536T>C | NP_001157751.1:p.Ile179Thr | |
| NM_001164280.1:c.755T>C | NP_001157752.1:p.Ile252Thr | |
| NM_001467.5:c.755T>C | NP_001458.1:p.Ile252Thr | |
| NM_001164278.2:c.755T>C | NP_001157750.1:p.Ile252Thr | |
| NM_001164279.2:c.536T>C | NP_001157751.1:p.Ile179Thr | |
| NM_001164280.2:c.755T>C | NP_001157752.1:p.Ile252Thr | |
| NM_001467.6:c.755T>C | NP_001458.1:p.Ile252Thr | |
| NM_001164277.2:c.755T>C MANE Select | NP_001157749.1:p.Ile252Thr |