Linked Data
ClinVar Variation Id:
878360
dbSNP Id:
rs370938370
ExAC:
10:50669394 T / C
gnomAD v2:
10-50669394-T-C
gnomAD v3:
10-49461348-T-C
gnomAD v4:
10-49461348-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461348T>C , CM000672.2:g.49461348T>C | GRCh38 |
| NC_000010.10:g.50669394T>C , CM000672.1:g.50669394T>C | GRCh37 |
| NC_000010.9:g.50339400T>C | NCBI36 |
| NG_009442.1:g.82754A>G , LRG_465:g.82754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3983+4A>G MANE Select | ENSP00000348089.5:n.3983+4A>G | |
| ENST00000679552.1:n.1054+4A>G | ||
| ENST00000679871.1:n.1129+4A>G | ||
| ENST00000679974.1:n.1032+4A>G | ||
| ENST00000681632.1:n.5386+4A>G | ||
| ENST00000681659.1:c.3824+4A>G | ENSP00000505631.1:n.3824+4A>G | |
| ENST00000355832.9:c.3983+4A>G | ENSP00000348089.5:n.3983+4A>G | |
| ENST00000465653.1:n.305+4A>G | ||
| ENST00000623073.3:c.*2279+4A>G | ENSP00000485650.1:n.*2279+4A>G | |
| ENST00000623115.3:c.2093+4A>G | ENSP00000485321.1:n.2093+4A>G | |
| ENST00000624341.3:c.1815+4A>G | ||
| NM_000124.3:c.3983+4A>G | NP_000115.1:n.3983+4A>G | |
| XR_945953.1:n.243-10217T>C | ||
| NM_001346440.1:c.3983+4A>G | NP_001333369.1:n.3983+4A>G | |
| NM_000124.4:c.3983+4A>G MANE Select | NP_000115.1:n.3983+4A>G | |
| NM_001346440.2:c.3983+4A>G | NP_001333369.1:n.3983+4A>G |