Linked Data
ClinVar Variation Id:
2886461
ClinVar RCV Id:
RCV003648767
dbSNP Id:
rs1564886392
gnomAD v4:
11-2768875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768875G>A , CM000673.2:g.2768875G>A | GRCh38 |
| NC_000011.9:g.2790105G>A , CM000673.1:g.2790105G>A | GRCh37 |
| NC_000011.8:g.2746681G>A | NCBI36 |
| NG_008935.1:g.328885G>A , LRG_287:g.328885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1189G>A | ENSP00000434560.2:p.Val397Ile | |
| ENST00000646564.2:c.1006G>A | ENSP00000495806.2:p.Val336Ile | |
| ENST00000155840.12:c.1546G>A MANE Select | ENSP00000155840.2:p.Val516Ile | |
| ENST00000335475.6:c.1165G>A | ENSP00000334497.5:p.Val389Ile | |
| ENST00000646564.1:c.652G>A | ENSP00000495806.1:p.Val218Ile | |
| ENST00000155840.9:c.1546G>A | ENSP00000155840.2:p.Val516Ile | |
| ENST00000335475.5:c.1165G>A | ENSP00000334497.5:p.Val389Ile | |
| NM_000218.2:c.1546G>A , LRG_287t1:c.1546G>A | NP_000209.2:p.Val516Ile | |
| NM_181798.1:c.1165G>A , LRG_287t2:c.1165G>A | NP_861463.1:p.Val389Ile | |
| NM_000218.3:c.1546G>A MANE Select | NP_000209.2:p.Val516Ile |