Linked Data
ClinVar Variation Id:
517026
dbSNP Id:
rs144149447
ExAC:
17:37822137 C / T
gnomAD v2:
17-37822137-C-T
gnomAD v3:
17-39665884-C-T
gnomAD v4:
17-39665884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665884C>T , CM000679.2:g.39665884C>T | GRCh38 |
| NC_000017.10:g.37822137C>T , CM000679.1:g.37822137C>T | GRCh37 |
| NC_000017.9:g.35075663C>T | NCBI36 |
| NG_008892.1:g.5539C>T , LRG_210:g.5539C>T | |
| NG_042278.1:g.2904C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.279C>T MANE Select | ENSP00000312624.2:p.Ile93= | |
| ENST00000309889.2:c.279C>T | ENSP00000312624.2:p.Ile93= | |
| ENST00000578283.1:c.207C>T | ENSP00000462787.1:p.Ile69= | |
| NM_003673.3:c.279C>T , LRG_210t1:c.279C>T | NP_003664.1:p.Ile93= | |
| NM_003673.4:c.279C>T MANE Select | NP_003664.1:p.Ile93= |