Linked Data
ClinVar Variation Id:
450683
dbSNP Id:
rs778027769
ExAC:
15:48722920 C / T
gnomAD v2:
15-48722920-C-T
gnomAD v3:
15-48430723-C-T
gnomAD v4:
15-48430723-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430723C>T , CM000677.2:g.48430723C>T | GRCh38 |
| NC_000015.9:g.48722920C>T , CM000677.1:g.48722920C>T | GRCh37 |
| NC_000015.8:g.46510212C>T | NCBI36 |
| NG_008805.2:g.220066G>A , LRG_778:g.220066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6819G>A | ENSP00000453958.2:p.Met2273Ile | |
| ENST00000674301.2:c.*270G>A | ENSP00000501333.2:n.*270G>A | |
| ENST00000682170.1:n.428G>A | ||
| ENST00000316623.10:c.6819G>A MANE Select | ENSP00000325527.5:p.Met2273Ile | |
| ENST00000674301.1:c.1923G>A | ENSP00000501333.1:n.1923G>A | |
| ENST00000316623.9:c.6819G>A | ENSP00000325527.5:p.Met2273Ile | |
| ENST00000559133.5:c.2126G>A | ||
| ENST00000560720.1:n.106G>A | ||
| NM_000138.4:c.6819G>A , LRG_778t1:c.6819G>A | NP_000129.3:p.Met2273Ile | |
| NM_000138.5:c.6819G>A MANE Select | NP_000129.3:p.Met2273Ile |