Linked Data
ClinVar Variation Id:
1547244
ClinVar RCV Id:
RCV002173345
dbSNP Id:
rs540141675
gnomAD v2:
10-50668405-G-T
gnomAD v4:
10-49460359-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49460359G>T , CM000672.2:g.49460359G>T | GRCh38 |
| NC_000010.10:g.50668405G>T , CM000672.1:g.50668405G>T | GRCh37 |
| NC_000010.9:g.50338411G>T | NCBI36 |
| NG_009442.1:g.83743C>A , LRG_465:g.83743C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.4062+14C>A MANE Select | ENSP00000348089.5:n.4062+14C>A | |
| ENST00000679552.1:n.1147C>A | ||
| ENST00000679871.1:n.1208+14C>A | ||
| ENST00000679974.1:n.1111+14C>A | ||
| ENST00000681632.1:n.5465+14C>A | ||
| ENST00000681659.1:c.3903+14C>A | ENSP00000505631.1:n.3903+14C>A | |
| ENST00000355832.9:c.4062+14C>A | ENSP00000348089.5:n.4062+14C>A | |
| ENST00000465653.1:n.398C>A | ||
| ENST00000623073.3:c.*2358+14C>A | ENSP00000485650.1:n.*2358+14C>A | |
| ENST00000623115.3:c.2172+14C>A | ENSP00000485321.1:n.2172+14C>A | |
| ENST00000624341.3:c.1894+14C>A | ||
| NM_000124.3:c.4062+14C>A | NP_000115.1:n.4062+14C>A | |
| XR_945953.1:n.243-11206G>T | ||
| NM_001346440.1:c.4062+14C>A | NP_001333369.1:n.4062+14C>A | |
| NM_000124.4:c.4062+14C>A MANE Select | NP_000115.1:n.4062+14C>A | |
| NM_001346440.2:c.4062+14C>A | NP_001333369.1:n.4062+14C>A |