Linked Data
ClinVar Variation Id:
3192873
ClinVar RCV Id:
RCV004483793
dbSNP Id:
rs771853406
ExAC:
8:135614538 G / A
gnomAD v2:
8-135614538-G-A
gnomAD v3:
8-134602295-G-A
gnomAD v4:
8-134602295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134602295G>A , CM000670.2:g.134602295G>A | GRCh38 |
| NC_000008.10:g.135614538G>A , CM000670.1:g.135614538G>A | GRCh37 |
| NC_000008.9:g.135683720G>A | NCBI36 |
| NG_016356.1:g.115755C>T | |
| NG_016356.2:g.115755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.1424C>T MANE Select | ENSP00000367069.3:p.Thr475Ile | |
| ENST00000377838.7:c.1424C>T | ENSP00000367069.3:p.Thr475Ile | |
| ENST00000429442.6:c.1388C>T | ENSP00000394501.2:p.Thr463Ile | |
| ENST00000520214.5:c.1388C>T | ENSP00000428483.1:p.Thr463Ile | |
| ENST00000520356.5:c.1388C>T | ENSP00000427879.1:p.Thr463Ile | |
| ENST00000520727.5:c.1388C>T | ENSP00000427831.1:p.Thr463Ile | |
| ENST00000522974.5:n.1529C>T | ||
| ENST00000523243.5:c.1424C>T | ENSP00000429930.1:p.Thr475Ile | |
| ENST00000523399.5:c.1238C>T | ENSP00000429091.1:p.Thr413Ile | |
| ENST00000523924.5:c.*1406C>T | ENSP00000429050.1:n.*1406C>T | |
| NM_001029939.3:c.1388C>T | NP_001025110.2:p.Thr463Ile | |
| NM_001167583.2:c.1388C>T | NP_001161055.1:p.Thr463Ile | |
| NM_001174157.1:c.1238C>T | NP_001167628.1:p.Thr413Ile | |
| NM_001174158.1:c.1388C>T | NP_001167629.1:p.Thr463Ile | |
| NM_001289394.1:c.1388C>T | NP_001276323.1:p.Thr463Ile | |
| NM_020863.3:c.1424C>T | NP_065914.2:p.Thr475Ile | |
| NR_110323.1:n.1610C>T | ||
| XM_011517203.1:c.1388C>T | XP_011515505.1:p.Thr463Ile | |
| XM_011517204.1:c.1238C>T | XP_011515506.1:p.Thr413Ile | |
| XM_011517205.1:c.1388C>T | XP_011515507.1:p.Thr463Ile | |
| XM_011517206.1:c.1388C>T | XP_011515508.1:p.Thr463Ile | |
| XR_928343.1:n.1405C>T | ||
| XM_011517204.2:c.1238C>T | XP_011515506.1:p.Thr413Ile | |
| XM_011517206.2:c.1388C>T | XP_011515508.1:p.Thr463Ile | |
| XM_017013716.1:c.1388C>T | XP_016869205.1:p.Thr463Ile | |
| XR_001745568.1:n.1405C>T | ||
| XR_001745569.1:n.1405C>T | ||
| XR_001745570.1:n.1405C>T | ||
| XR_928343.2:n.1405C>T | ||
| NM_020863.4:c.1424C>T MANE Select | NP_065914.2:p.Thr475Ile | |
| NM_001029939.4:c.1388C>T | NP_001025110.2:p.Thr463Ile | |
| NM_001167583.3:c.1388C>T | NP_001161055.1:p.Thr463Ile | |
| NM_001174157.2:c.1238C>T | NP_001167628.1:p.Thr413Ile | |
| NM_001174158.2:c.1388C>T | NP_001167629.1:p.Thr463Ile | |
| NM_001289394.2:c.1388C>T | NP_001276323.1:p.Thr463Ile | |
| NR_110323.2:n.1592C>T |