Linked Data
ClinVar Variation Id:
1015333
ClinVar RCV Id:
RCV001314182
dbSNP Id:
rs758927346
ExAC:
3:93598087 C / T
gnomAD v2:
3-93598087-C-T
gnomAD v3:
3-93879243-C-T
gnomAD v4:
3-93879243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879243C>T , CM000665.2:g.93879243C>T | GRCh38 |
| NC_000003.11:g.93598087C>T , CM000665.1:g.93598087C>T | GRCh37 |
| NC_000003.10:g.95080777C>T | NCBI36 |
| NG_009813.1:g.99848G>A , LRG_572:g.99848G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1564G>A | ENSP00000330021.7:p.Val522Ile | |
| ENST00000394236.9:c.1564G>A MANE Select | ENSP00000377783.3:p.Val522Ile | |
| ENST00000407433.6:c.1519G>A | ENSP00000385794.2:p.Val507Ile | |
| ENST00000647936.1:c.1564G>A | ENSP00000496822.1:p.Val522Ile | |
| ENST00000648381.1:n.1732G>A | ||
| ENST00000648853.1:c.1522G>A | ENSP00000497262.1:p.Val508Ile | |
| ENST00000649103.1:c.1663G>A | ENSP00000497962.1:n.1663G>A | |
| ENST00000649585.1:c.507G>A | ENSP00000498163.1:n.507G>A | |
| ENST00000650591.1:c.1660G>A | ENSP00000497376.1:p.Val554Ile | |
| ENST00000394236.7:c.1564G>A | ENSP00000377783.3:p.Val522Ile | |
| ENST00000407433.5:c.1171G>A | ENSP00000385794.1:p.Val391Ile | |
| NM_000313.3:c.1564G>A , LRG_572t1:c.1564G>A | NP_000304.2:p.Val522Ile | |
| NM_001314077.1:c.1660G>A , LRG_572t2:c.1660G>A | NP_001301006.1:p.Val554Ile | |
| NM_000313.4:c.1564G>A MANE Select | NP_000304.2:p.Val522Ile | |
| NM_001314077.2:c.1660G>A | NP_001301006.1:p.Val554Ile |