Linked Data
ClinVar Variation Id:
16449
dbSNP Id:
rs112989722
gnomAD v2:
15-48729544-G-A
gnomAD v3:
15-48437347-G-A
gnomAD v4:
15-48437347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437347G>A , CM000677.2:g.48437347G>A | GRCh38 |
| NC_000015.9:g.48729544G>A , CM000677.1:g.48729544G>A | GRCh37 |
| NC_000015.8:g.46516836G>A | NCBI36 |
| NG_008805.2:g.213442C>T , LRG_778:g.213442C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.6354C>T | ENSP00000453958.2:p.Ile2118= | |
| ENST00000674301.2:c.6354C>T | ENSP00000501333.2:p.Ile2118= | |
| ENST00000316623.10:c.6354C>T MANE Select | ENSP00000325527.5:p.Ile2118= | |
| ENST00000674301.1:c.1353C>T | ENSP00000501333.1:p.Ile451= | |
| ENST00000316623.9:c.6354C>T | ENSP00000325527.5:p.Ile2118= | |
| ENST00000537463.6:c.*2117C>T | ENSP00000440294.2:n.*2117C>T | |
| ENST00000559133.5:c.1661C>T | ||
| NM_000138.4:c.6354C>T , LRG_778t1:c.6354C>T | NP_000129.3:p.Ile2118= | |
| NM_000138.5:c.6354C>T MANE Select | NP_000129.3:p.Ile2118= |