Linked Data
dbSNP Id:
rs542684385
gnomAD v4:
1-114684239-A-G
MyVariant Identifiers:
chr1:g.115226860A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684239A>G , CM000663.2:g.114684239A>G | GRCh38 |
| NC_000001.10:g.115226860A>G , CM000663.1:g.115226860A>G | GRCh37 |
| NC_000001.9:g.115028383A>G | NCBI36 |
| NG_008012.1:g.16317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.495T>C | ENSP00000358551.4:p.Ile165= | |
| ENST00000520113.7:c.507T>C MANE Select | ENSP00000430075.3:p.Ile169= | |
| ENST00000637080.1:c.510T>C | ENSP00000489753.1:p.Ile170= | |
| ENST00000639077.1:n.172T>C | ||
| ENST00000369538.3:c.594T>C | ENSP00000358551.3:p.Ile198= | |
| ENST00000485564.3:n.381T>C | ||
| ENST00000520113.6:c.606T>C | ENSP00000430075.2:p.Ile202= | |
| NM_000036.2:c.606T>C | NP_000027.2:p.Ile202= | |
| NM_001172626.1:c.594T>C | NP_001166097.1:p.Ile198= | |
| NM_000036.3:c.507T>C MANE Select | NP_000027.3:p.Ile169= | |
| NM_001172626.2:c.495T>C | NP_001166097.2:p.Ile165= |