Linked Data
ClinVar Variation Id:
569057
ClinVar RCV Id:
RCV000689591
dbSNP Id:
rs746091910
ExAC:
17:42456010 C / T
gnomAD v2:
17-42456010-C-T
gnomAD v4:
17-44378642-C-T
ERepo:
CA8602901/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44378642C>T , CM000679.2:g.44378642C>T | GRCh38 |
| NC_000017.10:g.42456010C>T , CM000679.1:g.42456010C>T | GRCh37 |
| NC_000017.9:g.39811536C>T | NCBI36 |
| NG_008331.1:g.15864G>A , LRG_479:g.15864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1946+1G>A MANE Select | ENSP00000262407.5:n.1946+1G>A | |
| ENST00000648408.1:c.1377+1G>A | ||
| ENST00000262407.5:c.1946+1G>A | ENSP00000262407.5:n.1946+1G>A | |
| ENST00000592462.5:n.741+1G>A | ||
| NM_000419.3:c.1946+1G>A , LRG_479t1:c.1946+1G>A | NP_000410.2:n.1946+1G>A | |
| XM_011524749.1:c.1946+1G>A | XP_011523051.1:n.1946+1G>A | |
| XM_011524750.1:c.1946+1G>A | XP_011523052.1:n.1946+1G>A | |
| NM_000419.4:c.1946+1G>A | NP_000410.2:n.1946+1G>A | |
| NM_000419.5:c.1946+1G>A MANE Select | NP_000410.2:n.1946+1G>A |