Linked Data
ClinVar Variation Id:
255540
dbSNP Id:
rs5920
ExAC:
17:45360896 T / C
gnomAD v2:
17-45360896-T-C
gnomAD v3:
17-47283530-T-C
gnomAD v4:
17-47283530-T-C
ERepo:
CA8622916/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283530T>C , CM000679.2:g.47283530T>C | GRCh38 |
| NC_000017.10:g.45360896T>C , CM000679.1:g.45360896T>C | GRCh37 |
| NC_000017.9:g.42715895T>C | NCBI36 |
| NG_008332.2:g.34689T>C , LRG_481:g.34689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.342T>C | ENSP00000513002.1:p.Ile114= | |
| ENST00000559488.7:c.342T>C MANE Select | ENSP00000452786.2:p.Ile114= | |
| ENST00000559488.5:c.342T>C | ENSP00000452786.1:p.Ile114= | |
| ENST00000560629.1:c.307T>C | ||
| ENST00000571680.1:c.342T>C | ENSP00000461626.1:p.Ile114= | |
| NM_000212.2:c.342T>C , LRG_481t1:c.342T>C | NP_000203.2:p.Ile114= | |
| NM_000212.3:c.342T>C MANE Select | NP_000203.2:p.Ile114= |