Linked Data
ClinVar Variation Id:
1358864
ClinVar RCV Id:
RCV001872110
dbSNP Id:
rs2055556252
gnomAD v3:
15-89328765-C-T
gnomAD v4:
15-89328765-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328765C>T , CM000677.2:g.89328765C>T | GRCh38 |
| NC_000015.9:g.89871996C>T , CM000677.1:g.89871996C>T | GRCh37 |
| NC_000015.8:g.87673000C>T | NCBI36 |
| NG_008218.1:g.11031G>A | |
| NG_008218.2:g.11031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1090G>A | ENSP00000516154.1:p.Val364Ile | |
| ENST00000268124.11:c.1090G>A MANE Select | ENSP00000268124.5:p.Val364Ile | |
| ENST00000530292.3:c.691G>A | ENSP00000432885.2:p.Val231Ile | |
| ENST00000635986.2:c.1090G>A | ENSP00000490653.2:p.Val364Ile | |
| ENST00000636774.1:c.1090G>A | ENSP00000489799.1:p.Val364Ile | |
| ENST00000637264.1:c.162G>A | ||
| ENST00000666746.1:c.747G>A | ||
| ENST00000672071.1:n.1288G>A | ||
| ENST00000672923.2:n.87G>A | ||
| ENST00000268124.9:c.1090G>A | ENSP00000268124.5:p.Val364Ile | |
| ENST00000442287.6:c.1090G>A | ENSP00000399851.2:p.Val364Ile | |
| ENST00000631044.2:c.*473G>A | ENSP00000486730.1:n.*473G>A | |
| NM_001126131.1:c.1090G>A | NP_001119603.1:p.Val364Ile | |
| NM_002693.2:c.1090G>A | NP_002684.1:p.Val364Ile | |
| NM_001126131.2:c.1090G>A | NP_001119603.1:p.Val364Ile | |
| NM_002693.3:c.1090G>A MANE Select | NP_002684.1:p.Val364Ile |