Linked Data
dbSNP Id:
rs1334064557
gnomAD v2:
10-50708645-T-C
gnomAD v3:
10-49500599-T-C
gnomAD v4:
10-49500599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49500599T>C , CM000672.2:g.49500599T>C | GRCh38 |
| NC_000010.10:g.50708645T>C , CM000672.1:g.50708645T>C | GRCh37 |
| NC_000010.9:g.50378651T>C | NCBI36 |
| NG_009442.1:g.43503A>G , LRG_465:g.43503A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1624A>G MANE Select | ENSP00000348089.5:p.Ile542Val | |
| ENST00000681632.1:n.1702A>G | ||
| ENST00000681659.1:c.1526+5285A>G | ENSP00000505631.1:n.1526+5285A>G | |
| ENST00000355832.9:c.1624A>G | ENSP00000348089.5:p.Ile542Val | |
| ENST00000475116.1:n.214A>G | ||
| ENST00000623073.3:c.25A>G | ENSP00000485650.1:p.Ile9Val | |
| ENST00000623115.3:c.-131A>G | ENSP00000485321.1:n.-131A>G | |
| ENST00000623318.1:c.25A>G | ENSP00000485423.1:p.Ile9Val | |
| NM_000124.3:c.1624A>G | NP_000115.1:p.Ile542Val | |
| NM_001346440.1:c.1624A>G | NP_001333369.1:p.Ile542Val | |
| NM_000124.4:c.1624A>G MANE Select | NP_000115.1:p.Ile542Val | |
| NM_001346440.2:c.1624A>G | NP_001333369.1:p.Ile542Val |