Linked Data
ClinVar Variation Id:
3038937
ClinVar RCV Id:
RCV003922322
dbSNP Id:
rs778272248
ExAC:
17:56350926 G / A
gnomAD v2:
17-56350926-G-A
gnomAD v3:
17-58273565-G-A
gnomAD v4:
17-58273565-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273565G>A , CM000679.2:g.58273565G>A | GRCh38 |
| NC_000017.10:g.56350926G>A , CM000679.1:g.56350926G>A | GRCh37 |
| NC_000017.9:g.53705925G>A | NCBI36 |
| NG_009629.1:g.12371C>T , LRG_84:g.12371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.803C>T | ||
| ENST00000699291.1:c.595C>T | ENSP00000514272.1:n.595C>T | |
| ENST00000699292.1:n.510C>T | ||
| ENST00000225275.4:c.1470C>T MANE Select | ENSP00000225275.3:p.Ile490= | |
| ENST00000225275.3:c.1470C>T | ENSP00000225275.3:p.Ile490= | |
| NM_000250.1:c.1470C>T , LRG_84t1:c.1470C>T | NP_000241.1:p.Ile490= | |
| XM_011524821.1:c.1656C>T | XP_011523123.1:p.Ile552= | |
| XM_011524822.1:c.1185C>T | XP_011523124.1:p.Ile395= | |
| XM_011524823.1:c.*19C>T | XP_011523125.1:n.*19C>T | |
| NM_000250.2:c.1470C>T MANE Select | NP_000241.1:p.Ile490= |