Linked Data
dbSNP Id:
rs1847900266
gnomAD v3:
11-17638497-T-C
gnomAD v4:
11-17638497-T-C
MyVariant Identifiers:
chr11:g.17660044T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17638497T>C , CM000673.2:g.17638497T>C | GRCh38 |
| NC_000011.9:g.17660044T>C , CM000673.1:g.17660044T>C | GRCh37 |
| NC_000011.8:g.17616620T>C | NCBI36 |
| NG_033191.1:g.96125T>C | |
| NG_033191.2:g.96125T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.7878T>C | ENSP00000382323.2:p.Thr2626= | |
| ENST00000399397.6:c.7842T>C MANE Select | ENSP00000382329.2:p.Thr2614= | |
| ENST00000342528.2:c.4470T>C | ENSP00000341666.2:p.Thr1490= | |
| ENST00000399391.6:c.7878T>C | ENSP00000382323.2:p.Thr2626= | |
| ENST00000399397.5:c.7842T>C | ENSP00000382329.2:p.Thr2614= | |
| NM_001277269.1:c.7878T>C | NP_001264198.1:p.Thr2626= | |
| NM_001292063.1:c.7842T>C | NP_001278992.1:p.Thr2614= | |
| NM_001277269.2:c.7878T>C | NP_001264198.1:p.Thr2626= | |
| NM_001292063.2:c.7842T>C MANE Select | NP_001278992.1:p.Thr2614= |