Linked Data
ClinVar Variation Id:
323564
ClinVar RCV Id:
RCV000334465
dbSNP Id:
rs200108644
ExAC:
17:42462457 G / A
gnomAD v2:
17-42462457-G-A
gnomAD v3:
17-44385089-G-A
gnomAD v4:
17-44385089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44385089G>A , CM000679.2:g.44385089G>A | GRCh38 |
| NC_000017.10:g.42462457G>A , CM000679.1:g.42462457G>A | GRCh37 |
| NC_000017.9:g.39817983G>A | NCBI36 |
| NG_008331.1:g.9417C>T , LRG_479:g.9417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.671-13C>T MANE Select | ENSP00000262407.5:n.671-13C>T | |
| ENST00000648408.1:c.102-13C>T | ||
| ENST00000262407.5:c.671-13C>T | ENSP00000262407.5:n.671-13C>T | |
| ENST00000589645.5:n.122-13C>T | ||
| ENST00000591990.5:n.33-13C>T | ||
| ENST00000592075.5:n.40-13C>T | ||
| ENST00000592226.5:n.39+75C>T | ||
| ENST00000592253.5:n.179-13C>T | ||
| ENST00000592944.1:n.353-13C>T | ||
| NM_000419.3:c.671-13C>T , LRG_479t1:c.671-13C>T | NP_000410.2:n.671-13C>T | |
| XM_011524749.1:c.671-13C>T | XP_011523051.1:n.671-13C>T | |
| XM_011524750.1:c.671-13C>T | XP_011523052.1:n.671-13C>T | |
| NM_000419.4:c.671-13C>T | NP_000410.2:n.671-13C>T | |
| NM_000419.5:c.671-13C>T MANE Select | NP_000410.2:n.671-13C>T |