Linked Data
ClinVar Variation Id:
1519648
ClinVar RCV Id:
RCV002043751
dbSNP Id:
rs139932923
ExAC:
10:50678858 C / T
gnomAD v2:
10-50678858-C-T
gnomAD v3:
10-49470812-C-T
gnomAD v4:
10-49470812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470812C>T , CM000672.2:g.49470812C>T | GRCh38 |
| NC_000010.10:g.50678858C>T , CM000672.1:g.50678858C>T | GRCh37 |
| NC_000010.9:g.50348864C>T | NCBI36 |
| NG_009442.1:g.73290G>A , LRG_465:g.73290G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3148G>A MANE Select | ENSP00000348089.5:p.Val1050Ile | |
| ENST00000679552.1:n.219G>A | ||
| ENST00000679871.1:n.294G>A | ||
| ENST00000679974.1:n.197G>A | ||
| ENST00000681632.1:n.4551G>A | ||
| ENST00000681659.1:c.2989G>A | ENSP00000505631.1:p.Val997Ile | |
| ENST00000355832.9:c.3148G>A | ENSP00000348089.5:p.Val1050Ile | |
| ENST00000623073.3:c.*1444G>A | ENSP00000485650.1:n.*1444G>A | |
| ENST00000623115.3:c.1258G>A | ENSP00000485321.1:p.Val420Ile | |
| ENST00000624341.3:c.980G>A | ||
| NM_000124.3:c.3148G>A | NP_000115.1:p.Val1050Ile | |
| XR_945953.1:n.243-753C>T | ||
| NM_001346440.1:c.3148G>A | NP_001333369.1:p.Val1050Ile | |
| NM_000124.4:c.3148G>A MANE Select | NP_000115.1:p.Val1050Ile | |
| NM_001346440.2:c.3148G>A | NP_001333369.1:p.Val1050Ile |