Linked Data
ClinVar Variation Id:
892239
ClinVar RCV Id:
RCV001128133
dbSNP Id:
rs530669664
ExAC:
17:42449795 G / A
gnomAD v2:
17-42449795-G-A
gnomAD v3:
17-44372427-G-A
gnomAD v4:
17-44372427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372427G>A , CM000679.2:g.44372427G>A | GRCh38 |
| NC_000017.10:g.42449795G>A , CM000679.1:g.42449795G>A | GRCh37 |
| NC_000017.9:g.39805321G>A | NCBI36 |
| NG_008331.1:g.22079C>T , LRG_479:g.22079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3061-4C>T MANE Select | ENSP00000262407.5:n.3061-4C>T | |
| ENST00000648408.1:c.2375-4C>T | ||
| ENST00000262407.5:c.3061-4C>T | ENSP00000262407.5:n.3061-4C>T | |
| ENST00000587295.5:c.254-4C>T | ||
| ENST00000588098.1:c.38-4C>T | ||
| NM_000419.3:c.3061-4C>T , LRG_479t1:c.3061-4C>T | NP_000410.2:n.3061-4C>T | |
| XM_011524749.1:c.2959-4C>T | XP_011523051.1:n.2959-4C>T | |
| XM_011524750.1:c.2944-4C>T | XP_011523052.1:n.2944-4C>T | |
| NM_000419.4:c.3061-4C>T | NP_000410.2:n.3061-4C>T | |
| NM_000419.5:c.3061-4C>T MANE Select | NP_000410.2:n.3061-4C>T |