Linked Data
ClinVar Variation Id:
598738
ClinVar RCV Id:
RCV000735200
dbSNP Id:
rs1564725764
gnomAD v4:
10-49461393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461393C>T , CM000672.2:g.49461393C>T | GRCh38 |
| NC_000010.10:g.50669439C>T , CM000672.1:g.50669439C>T | GRCh37 |
| NC_000010.9:g.50339445C>T | NCBI36 |
| NG_009442.1:g.82709G>A , LRG_465:g.82709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3942G>A MANE Select | ENSP00000348089.5:p.Trp1314Ter | |
| ENST00000679552.1:n.1013G>A | ||
| ENST00000679871.1:n.1088G>A | ||
| ENST00000679974.1:n.991G>A | ||
| ENST00000681632.1:n.5345G>A | ||
| ENST00000681659.1:c.3783G>A | ENSP00000505631.1:p.Trp1261Ter | |
| ENST00000355832.9:c.3942G>A | ENSP00000348089.5:p.Trp1314Ter | |
| ENST00000465653.1:n.264G>A | ||
| ENST00000623073.3:c.*2238G>A | ENSP00000485650.1:n.*2238G>A | |
| ENST00000623115.3:c.2052G>A | ENSP00000485321.1:p.Trp684Ter | |
| ENST00000624341.3:c.1774G>A | ||
| NM_000124.3:c.3942G>A | NP_000115.1:p.Trp1314Ter | |
| XR_945953.1:n.243-10172C>T | ||
| NM_001346440.1:c.3942G>A | NP_001333369.1:p.Trp1314Ter | |
| NM_000124.4:c.3942G>A MANE Select | NP_000115.1:p.Trp1314Ter | |
| NM_001346440.2:c.3942G>A | NP_001333369.1:p.Trp1314Ter |